Literature

Kitamura Y, Matsuda H, Hatanaka K. Clonal nature of mast-cell clusters formed in W/Wv mice after bone marrow transplantation. Nature. 1979;281(5727):154-155.

Kitamura Y, Yokoyama M, Matsuda H, Ohno T, Mori KJ. Spleen colony-forming cell as common precursor for tissue mast cells and granulocytes. Nature. 1981;291(5811):159-160.

Galli SJ. New insights into "the riddle of the mast cells": microenvironmental regulation of mast cell development and phenotypic heterogeneity. Lab Invest. 1990;62:5-33.

Galli SJ, Tsai M, Wershil BK. The c-kit receptor, stem cell factor, and mast cells. What each is teaching us about the others. Am J Pathol. 1993;142(4):965-974.

Födinger M, Fritsch G, Winkler K, Emminger W, Mitterbauer G, Gadner H, Valent P, Mannhalter C. Origin of human mast cells: development from transplanted hematopoietic stem cells after allogeneic bone marrow transplantation. Blood. 1994;84(9):2954-2959.

Valent P. The riddle of the mast cell: kit(CD117)-ligand as the missing link? Immunol Today 1994;15(3):111-114.

Sperr WR, Drach J, Hauswirth AW, Ackermann J, Mitterbauer M, Mitterbauer G, Foedinger M, Fonatsch C, Simonitsch-Klupp I, Kalhs P, Valent P. Myelomastocytic leukemia: evidence for the origin of mast cells from the leukemic clone and eradication by allogeneic stem cell transplantation. Clin Cancer Res. 2005;11(19 Pt 1):6787-6792.

Metcalfe DD. Mast cells and mastocytosis. Blood. 2008;112(4):946-956.

Kalesnikoff J, Galli SJ. New developments in mast cell biology. Nat Immunol. 2008;9(11):1215-1223.

Metcalfe DD, Peavy RD, Gilfillan AM. Mechanisms of mast cell signaling in anaphylaxis. J Allergy Clin Immunol. 2009 Oct;124(4):639-646.

Galli SJ, Tsai M. IgE and mast cells in allergic disease. Nat Med. 2012;18(5):693-704.

Theoharides TC, Valent P, Akin C. Mast Cells, Mastocytosis, and Related Disorders. N Engl J Med. 2015;373(2):163-172.

Valent P, Akin C, Hartmann K, Nilsson G, Reiter A, Hermine O, Sotlar K, Sperr WR, Escribano L, George TI, Kluin-Nelemans HC, Ustun C, Triggiani M, Brockow K, Gotlib J, Orfao A, Kovanen PT, Hadzijusufovic E, Sadovnik I, Horny HP, Arock M, Schwartz LB, Austen KF, Metcalfe DD, Galli SJ. Mast cells as a unique hematopoietic lineage and cell system: From Paul Ehrlich's visions to precision medicine concepts. Theranostics. 2020;10(23):10743-10768.

Eisenwort G, Sadovnik I, Schwaab J, Jawhar M, Keller A, Stefanzl G, Berger D, Blatt K, Hoermann G, Bilban M, Willmann M, Winding C, Sperr WR, Arock M, Rülicke T, Reiter A, Valent P. Identification of a leukemia-initiating stem cell in human mast cell leukemia. Leukemia. 2019;33(11):2673-2684.

Parwaresch MR, Horny HP, Lennert K. Tissue mast cells in health and disease. Pathol Res Pract. 1985;179(4-5):439-461.

Lennert K, Parwaresch MR. Mast cells and mast cell neoplasia: a review. Histopathology. 1979;3(5):349-365.

Metcalfe DD. Classification and diagnosis of mastocytosis: current status. J Invest Dermatol. 1991;96(3):2S-4S.

Valent P. Biology, classification and treatment of human mastocytosis. Wien Klin Wochenschr. 1996;108(13):385-397.

Valent P, Escribano L, Parwaresch RM, Schemmel V, Schwartz LB, Sotlar K, Sperr WR, Horny HP. Recent advances in mastocytosis research. Summary of the Vienna Mastocytosis Meeting 1998. Int Arch Allergy Immunol. 1999 Sep;120(1):1-7.

Valent P, Horny HP, Escribano L, Longley BJ, Li CY, Schwartz LB, Marone G, Nuñez R, Akin C, Sotlar K, Sperr WR, Wolff K, Brunning RD, Parwaresch RM, Austen KF, Lennert K, Metcalfe DD, Vardiman JW, Bennett JM. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res 2001;25: 603-625.

Valent P, Horny HP, Escribano L, Longley BJ, Li CY, Schwartz LB, Marone G, Nuñez R, Akin C, Sotlar K, Sperr WR, Wolff K, Brunning RD, Parwaresch RM, Austen KF, Lennert K, Metcalfe DD, Vardiman JW, Bennett JM. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res. 2001;25(7):603-625.

Valent P, Horny H-P, Li CY, Longley JB, Metcalfe DD, Parwaresch RM, Bennett JM: Mastocytosis. World Health Organization (WHO) Classification of Tumours. Pathology & Genetics. Tumours of Haematopoietic and Lymphoid Tissues. eds: Jaffe ES, Harris NL, Stein H, Vardiman JW: vol 1. pp 291-302, 2001.

Valent P, Akin C, Escribano L, Födinger M, Hartmann K, Brockow K, Castells M, Sperr WR, Kluin-Nelemans HC, Hamdy NA, Lortholary O, Robyn J, van Doormaal J, Sotlar K, Hauswirth AW, Arock M, Hermine O, Hellmann A, Triggiani M, Niedoszytko M, Schwartz LB, Orfao A, Horny HP, Metcalfe DD. Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria. Eur J Clin Invest. 2007;37(6):435-453.

Horny HP, Akin C, Metcalfe DD, Escribano L, Bennett JM, Valent P, Bain BJ: Mastocytosis (Mast cell disease). World Health Organization (WHO) Classification of Tumours. Pathology & Genetics. Tumours of Haematopoietic and Lymphoid Tissues. eds: Swerdlow, SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW: vol 2. pp 54-63, 2008.

Sánchez-Muñoz L, Alvarez-Twose I, García-Montero AC, Teodosio C, Jara-Acevedo M, Pedreira CE, Matito A, Morgado JM, Sánchez ML, Mollejo M, Gonzalez-de-Olano D, Orfao A, Escribano L. Evaluation of the WHO criteria for the classification of patients with mastocytosis. Mod Pathol. 2011;24(9):1157-1168.

Horny HP, Akin C, Arber D, Peterson LA, Tefferi A, Metcalfe DD, Bennett JM, Bain B, Escribano L, Valent P. Mastocytosis. In: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Eds: Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, Siebert R. IARC Press Lyon, France, vol 3, pp 62-69, 2017.

Valent P, Akin C, Hartmann K, Nilsson G, Reiter A, Hermine O, Sotlar K, Sperr WR, Escribano L, George TI, Kluin-Nelemans HC, Ustun C, Triggiani M, Brockow K, Gotlib J, Orfao A, Schwartz LB, Broesby-Olsen S, Bindslev-Jensen C, Kovanen PT, Galli SJ, Austen KF, Arber DA, Horny HP, Arock M, Metcalfe DD. Advances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future. Cancer Res. 2017;77(6):1261-1270.

Valent P, Akin C, Metcalfe DD. Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts. Blood. 2017;129(11):1420-1427.

Valent P, Akin C, Arock M, Brockow K, Butterfield JH, Carter MC, Castells M, Escribano L, Hartmann K, Lieberman P, Nedoszytko B, Orfao A, Schwartz LB, Sotlar K, Sperr WR, Triggiani M, Valenta R, Horny HP, Metcalfe DD. Definitions, criteria and global classification of mast cell disorders with special reference to mast cell activation syndromes: a consensus proposal. Int Arch Allergy Immunol. 2012;157(3):215-225.

Alvarez-Twose I, González-de-Olano D, Sánchez-Muñoz L, Matito A, Jara-Acevedo M, Teodosio C, García-Montero A, Morgado JM, Orfao A, Escribano L. Validation of the REMA score for predicting mast cell clonality and systemic mastocytosis in patients with systemic mast cell activation symptoms. Int Arch Allergy Immunol. 2012;157(3):275-280.

Valent P, Escribano L, Broesby-Olsen S, Hartmann K, Grattan C, Brockow K, Niedoszytko M, Nedoszytko B, Oude Elberink JN, Kristensen T, Butterfield JH, Triggiani M, Alvarez-Twose I, Reiter A, Sperr WR, Sotlar K, Yavuz S, Kluin-Nelemans HC, Hermine O, Radia D, van Doormaal JJ, Gotlib J, Orfao A, Siebenhaar F, Schwartz LB, Castells M, Maurer M, Horny HP, Akin C, Metcalfe DD, Arock M; European Competence Network on Mastocytosis. Proposed diagnostic algorithm for patients with suspected mastocytosis: a proposal of the European Competence Network on Mastocytosis. Allergy. 2014;69(10):1267-1274.

Valent P, Akin C, Bonadonna P, Hartmann K, Brockow K, Niedoszytko M, Nedoszytko B, Siebenhaar F, Sperr WR, Oude Elberink JNG, Butterfield JH, Alvarez-Twose I, Sotlar K, Reiter A, Kluin-Nelemans HC, Hermine O, Gotlib J, Broesby-Olsen S, Orfao A, Horny HP, Triggiani M, Arock M, Schwartz LB, Metcalfe DD. Proposed Diagnostic Algorithm for Patients with Suspected Mast Cell Activation Syndrome. J Allergy Clin Immunol Pract. 2019;7(4):1125-1133.e1.

Fuchs D, Kilbertus A, Kofler K, von Bubnoff N, Shoumariyeh K, Zanotti R, Bonadonna P, Scaffidi L, Doubek M, Elberink HO, Span LFR, Hermine O, Elena C, Benvenuti P, Yavuz AS, Brockow K, Zink A, Aberer E, Gorska A, Romantowski J, Hadzijusufovic E, Fortina AB, Caroppo F, Perkins C, Illerhaus A, Panse J, Vucinic V, Jawhar M, Sabato V, Triggiani M, Parente R, Bergström A, Breynaert C, Gotlib J, Reiter A, Hartmann K, Niedoszytko M, Arock M, Kluin-Nelemans HC, Sperr WR, Greul R, Valent P. Scoring the risk of having systemic mastocytosis in adult patients with mastocytosis in the skin. J Allergy Clin Immunol Pract. 2020:S2213-2198(20)31354-31354.

Wolff K, Komar M, Petzelbauer P. Clinical and histopathological aspects of cutaneous mastocytosis. Leuk Res. 2001;25(7):519-528.

Hartmann K, Henz BM. Cutaneous mastocytosis -- clinical heterogeneity. Int Arch Allergy Immunol. 2002;127(2):143-146.

Castells M, Metcalfe DD, Escribano L. Diagnosis and treatment of cutaneous mastocytosis in children: practical recommendations. Am J Clin Dermatol. 2011;12(4):259-270.

Torrelo A, Alvarez-Twose I, Escribano L. Childhood mastocytosis. Curr Opin Pediatr. 2012;24(4):480-486.

Brockow K, Ring J, Alvarez-Twose I, Orfao A, Escribano L. Extensive blistering is a predictor for severe complications in children with mastocytosis. Allergy. 2012;67(10):1323-1324.

Hartmann K, Escribano L, Grattan C, Brockow K, Carter MC, Alvarez-Twose I, Matito A, Broesby-Olsen S, Siebenhaar F, Lange M, Niedoszytko M, Castells M, Oude Elberink JNG, Bonadonna P, Zanotti R, Hornick JL, Torrelo A, Grabbe J, Rabenhorst A, Nedoszytko B, Butterfield JH, Gotlib J, Reiter A, Radia D, Hermine O, Sotlar K, George TI, Kristensen TK, Kluin-Nelemans HC, Yavuz S, Hägglund H, Sperr WR, Schwartz LB, Triggiani M, Maurer M, Nilsson G, Horny HP, Arock M, Orfao A, Metcalfe DD, Akin C, Valent P. Cutaneous manifestations in patients with mastocytosis: Consensus report of the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology. J Allergy Clin Immunol. 2016;137(1):35-45.

Travis WD, Li CY, Hoagland HC, Travis LB, Banks PM. Mast cell leukemia: report of a case and review of the literature. Mayo Clin Proc. 1986;61(12):957-966.

Valent P, Spanblöchl E, Bankl HC, Sperr WR, Marosi C, Pirc-Danoewinata H, Virgolini I, Eichler HG, Agis H, Sillaber C, Bettelheim P, Lechner K. Kit ligand/mast cell growth factor-independent differentiation of mast cells in myelodysplasia and chronic myeloid leukemic blast crisis. Blood. 1994;84(12):4322-4332.

Sperr WR, Horny HP, Lechner K, Valent P. Clinical and biologic diversity of leukemias occurring in patients with mastocytosis. Leuk Lymphoma. 2000;37(5-6):473-486.

Valent P, Samorapoompichit P, Sperr WR, Horny HP, Lechner K. Myelomastocytic leukemia: myeloid neoplasm characterized by partial differentiation of mast cell-lineage cells. Hematol J. 2002;3(2):90-94.

Sperr WR, Drach J, Hauswirth AW, Ackermann J, Mitterbauer M, Mitterbauer G, Foedinger M, Fonatsch C, Simonitsch-Klupp I, Kalhs P, Valent P. Myelomastocytic leukemia: evidence for the origin of mast cells from the leukemic clone and eradication by allogeneic stem cell transplantation. Clin Cancer Res. 2005;11(19 Pt 1):6787-6792.

Arredondo AR, Gotlib J, Shier L, Medeiros B, Wong K, Cherry A, Corless C, Arber DA, Valent P, George TI. Myelomastocytic leukemia versus mast cell leukemia versus systemic mastocytosis associated with acute myeloid leukemia: a diagnostic challenge. Am J Hematol. 2010;85(8):600-606.

Joris M, Georgin-Lavialle S, Chandesris MO, Lhermitte L, Claisse JF, Canioni D, Hanssens K, Damaj G, Hermine O, Hamidou M. Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive. Case Rep Hematol. 2012;2012:517546.

Georgin-Lavialle S, Lhermitte L, Dubreuil P, Chandesris MO, Hermine O, Damaj G. Mast cell leukemia. Blood. 2013;121(8):1285-1295.

Valent P, Sotlar K, Sperr WR, Escribano L, Yavuz S, Reiter A, George TI, Kluin-Nelemans HC, Hermine O, Butterfield JH, Hägglund H, Ustun C, Hornick JL, Triggiani M, Radia D, Akin C, Hartmann K, Gotlib J, Schwartz LB, Verstovsek S, Orfao A, Metcalfe DD, Arock M, Horny HP. Refined diagnostic criteria and classification of mast cell leukemia (MCL) and myelomastocytic leukemia (MML): a consensus proposal. Ann Oncol. 2014;25(9):1691-1700.

Horny HP, Sotlar K, Reiter A, Valent P. Myelomastocytic leukemia: histopathological features, diagnostic criteria and differential diagnosis. Expert Rev Hematol. 2014;7(4):431-7.

Rich A, Sun J, Aldayel AS, Yin CC, Medeiros LJ, Konoplev S. Myelomastocytic leukemia with aberrant CD25 expression: case report and review of the literature. Clin Lymphoma Myeloma Leuk. 2014;14(5):e173-137.

Valent P, Sotlar K, Sperr WR, Reiter A, Arock M, Horny HP. Chronic mast cell leukemia: a novel leukemia-variant with distinct morphological and clinical features. Leuk Res. 2015;39(1):1-5.

Jawhar M, Schwaab J, Meggendorfer M, Naumann N, Horny HP, Sotlar K, Haferlach T, Schmitt K, Fabarius A, Valent P, Hofmann WK, Cross NCP, Metzgeroth G, Reiter A. The clinical and molecular diversity of mast cell leukemia with or without associated hematologic neoplasm. Haematologica. 2017;102(6):1035-1043.

Galura GM, Cherukuri SV, Hakim N, Gaur S, Orazi A. Acute aleukemic mast cell leukemia: Report of a case and review of the literature. Leuk Res Rep. 2020;14:100230.

Song J, Liu K, Pinilla-Ibarz J, Zhang H. A case report and case review: Chronic myeloid leukemia (CML) blast phase with myelomastocytic differentiation. Leuk Res Rep. 2020;14:100222.

Horny HP, Parwaresch MR, Kaiserling E, Müller K, Olbermann M, Mainzer K, Lennert K. Mast cell sarcoma of the larynx. J Clin Pathol. 1986;39(6):596-602.

Kojima M, Nakamura S, Itoh H, Ohno Y, Masawa N, Joshita T, Suchi T. Mast cell sarcoma with tissue eosinophilia arising in the ascending colon. Mod Pathol. 1999;12(7):739-743.

Guenther PP, Huebner A, Sobottka SB, Neumeister V, Weissbach G, Todt H, Parwaresch R. Temporary response of localized intracranial mast cell sarcoma to combination chemotherapy. J Pediatr Hematol Oncol. 2001;23(2):134-138.

Chott A, Guenther P, Huebner A, Selzer E, Parwaresch RM, Horny HP, Valent P. Morphologic and immunophenotypic properties of neoplastic cells in a case of mast cell sarcoma. Am J Surg Pathol. 2003;27(7):1013-1019.

Bautista-Quach MA, Booth CL, Kheradpour A, Zuppan CW, Rowsell EH, Weiss L, Wang J. Mast cell sarcoma in an infant: a case report and review of the literature. J Pediatr Hematol Oncol. 2013;35(4):315-320.

Ryan RJ, Akin C, Castells M, Wills M, Selig MK, Nielsen GP, Ferry JA, Hornick JL. Mast cell sarcoma: a rare and potentially under-recognized diagnostic entity with specific therapeutic implications. Mod Pathol. 2013;26(4):533-543.

Kim YS, Wu H, Pawlowska AB, Bautista-Quach MA, Huang Q, Gaal K, Chang KL. Pediatric mast cell sarcoma of temporal bone with novel L799F (2395 C>T) KIT mutation, mimicking histiocytic neoplasm. Am J Surg Pathol. 2013;37(3):453-458.

Schwaab J, Horny HP, Jonescheit J, Metzgeroth G, Schafhausen P, Gaiser T, Marx A, Kienle P, Hofmann WK, Reiter A. Mast cell sarcoma mimicking metastatic colon carcinoma. Ann Hematol. 2014;93(6):1067-1069.

Weiler CR, Butterfield J. Mast cell sarcoma: clinical management. Immunol Allergy Clin North Am. 2014;34(2):423-432.

Monnier J, Georgin-Lavialle S, Canioni D, Lhermitte L, Soussan M, Arock M, Bruneau J, Dubreuil P, Bodemer C, Chandesris MO, Lortholary O, Hermine O, Damaj G. Mast cell sarcoma: new cases and literature review. Oncotarget. 2016;7(40):66299-66309.

Kubasch AS, Franke GN, Aldaoud A, Weibl K, Jentzsch M, Sabri O, Horny HP, Fend F, Behre G, Platzbecker U, Vucinic V. Allogeneic Hematopoietic Stem Cell Transplantation in a Rare Case of Tonsillar Mast Cell Sarcoma. Front Oncol. 2020;10:219.

Akin C, Scott LM, Metcalfe DD. Slowly progressive systemic mastocytosis with high mast-cell burden and no evidence of a non-mast-cell hematologic disorder: an example of a smoldering case? Leuk Res. 2001;25(7):635-638.

Jordan JH, Fritsche-Polanz R, Sperr WR, Mitterbauer G, Födinger M, Schernthaner GH, Christian Bankl H, Gebhart W, Chott A, Lechner K, Valent P. A case of 'smouldering' mastocytosis with high mast cell burden, monoclonal myeloid cells, and C-KIT mutation Asp-816-Val. Leuk Res. 2001;25(7):627-634.

Valent P, Akin C, Sperr WR, Horny HP, Metcalfe DD. Smouldering mastocytosis: a novel subtype of systemic mastocytosis with slow progression. Int Arch Allergy Immunol. 2002;127(2):137-139.

Hauswirth AW, Sperr WR, Ghannadan M, Schernthaner GH, Jordan JH, Fritsche-Polanz R, Simonitsch-Klupp I, Födinger M, Lechner K, Valent P. A case of smouldering mastocytosis with peripheral blood eosinophilia and lymphadenopathy. Leuk Res. 2002;26(6):601-606.

Shah M, Holyoake TL, Jackson B, Drummond M. Smouldering systemic mastocytosis presenting with cryptic life-threatening crises: case report and literature review. Scott Med J. 2012;57(1):60.

Pardanani A. How I treat patients with indolent and smoldering mastocytosis (rare conditions but difficult to manage). Blood. 2013;121(16):3085-3094.

Xu Z, Jamison B, Bence-Bruckler I. Smouldering systemic mastocytosis with lymph node involvement mimicking malignant lymphoma. Ann Hematol. 2014;93(9):1603-1604.

Tefferi A, Shah S, Reichard KK, Hanson CA, Pardanani A. Smoldering mastocytosis: Survival comparisons with indolent and aggressive mastocytosis. Am J Hematol. 2019;94(1):E1-E2.

Travis WD, Li CY, Yam LT, Bergstralh EJ, Swee RG. Significance of systemic mast cell disease with associated hematologic disorders. Cancer. 1988;62(5):965-72.

Horny HP, Ruck M, Wehrmann M, Kaiserling E. Blood findings in generalized mastocytosis: evidence of frequent simultaneous occurrence of myeloproliferative disorders. Br J Haematol. 1990;76(2):186-193.

Lawrence JB, Friedman BS, Travis WD, Chinchilli VM, Metcalfe DD, Gralnick HR. Hematologic manifestations of systemic mast cell disease: a prospective study of laboratory and morphologic features and their relation to prognosis. Am J Med. 1991;91(6):612-6sot24.

Sperr WR, Walchshofer S, Horny HP, Födinger M, Simonitsch I, Fritsche-Polanz R, Schwarzinger I, Tschachler E, Sillaber C, Hagen W, Geissler K, Chott A, Lechner K, Valent P. Systemic mastocytosis associated with acute myeloid leukaemia: report of two cases and detection of the c-kit mutation Asp-816 to Val. Br J Haematol. 1998;103(3):740-749.

Sperr WR, Horny HP, Lechner K, Valent P. Clinical and biologic diversity of leukemias occurring in patients with mastocytosis. Leuk Lymphoma. 2000;37(5-6):473-486.

Sotlar K, Marafioti T, Griesser H, Theil J, Aepinus C, Jaussi R, Stein H, Valent P, Horny HP. Detection of c-kit mutation Asp 816 to Val in microdissected bone marrow infiltrates in a case of systemic mastocytosis associated with chronic myelomonocytic leukaemia. Mol Pathol. 2000;53(4):188-93.

Escribano L, Garca-Montero A, Núñez-López R, López-Jiménez J, Almeida J, Prados A, Orfao A. Systemic mastocytosis associated with acute myeloid leukemia: case report and implications for disease pathogenesis. J Allergy Clin Immunol. 2004;114(1):28-33.

Pullarkat VA, Bueso-Ramos C, Lai R, Kroft S, Wilson CS, Pullarkat ST, Bu X, Thein M, Lee M, Brynes RK. Systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease: analysis of clinicopathologic features and activating c-kit mutations. Am J Hematol. 2003;73(1):12-17.

Stellmacher F, Sotlar K, Balleisen L, Valent P, Horny HP. Bone marrow mastocytosis associated with IgM kappa plasma cell myeloma. Leuk Lymphoma. 2004;45(4):801-805.

Bernd HW, Sotlar K, Lorenzen J, Osieka R, Fabry U, Valent P, Horny HP. Acute myeloid leukaemia with t(8;21) associated with "occult" mastocytosis. Report of an unusual case and review of the literature. J Clin Pathol. 2004;57(3):324-328.

Horny HP, Sotlar K, Sperr WR, Valent P. Systemic mastocytosis with associated clonal haematological non-mast cell lineage diseases: a histopathological challenge. J Clin Pathol. 2004;57(6):604-608.

Pullarkat V, Bedell V, Kim Y, Bhatia R, Nakamura R, Forman S, Sun J, Senitzer D, Slovak ML. Neoplastic mast cells in systemic mastocytosis associated with t(8;21) acute myeloid leukemia are derived from the leukemic clone. Leuk Res. 2007;31(2):261-265.

Nagai S, Ichikawa M, Takahashi T, Sato H, Yokota H, Oshima K, Izutsu K, Hangaishi A, Kanda Y, Motokura T, Chiba S, Yatomi Y, Kurokawa M. The origin of neoplastic mast cells in systemic mastocytosis with AML1/ETO-positive acute myeloid leukemia. Exp Hematol. 2007;35(11):1747-1752.

Pullarkat ST, Pullarkat V, Kroft SH, Wilson CS, Ahsanuddin AN, Mann KP, Thein M, Grody WW, Brynes RK. Systemic mastocytosis associated with t(8;21)(q22;q22) acute myeloid leukemia. J Hematop. 2009;2(1):27-33.

Fritsche-Polanz R, Fritz M, Huber A, Sotlar K, Sperr WR, Mannhalter C, Födinger M, Valent P. High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the transforming KIT mutation D816V. Mol Oncol. 2010;4(4):335-346.

Sotlar K, Colak S, Bache A, Berezowska S, Krokowski M, Bültmann B, Valent P, Horny HP. Variable presence of KITD816V in clonal haematological non-mast cell lineage diseases associated with systemic mastocytosis (SM-AHNMD). J Pathol. 2010;220(5):586-595.

Cornet E, Dumézy F, Roumier C, Lepelley P, Jouy N, Philippe N, Renneville A, Berthon C, Nelken B, Quesnel B, Preudhomme C. Involvement of a common progenitor cell in core binding factor acute myeloid leukaemia associated with mastocytosis. Leuk Res. 2012;36(11):1330-1333.

Ustun C, Savage NM, Gotlib J, Bhalla K, Manaloor E, George TI. Systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease: a case review. Am J Hematol. 2012;87(2):191-193.

Wang SA, Hutchinson L, Tang G, Chen SS, Miron PM, Huh YO, Jones DM, Bueso-Ramos C, Verstovsek S, Medeiros LJ, Miranda RN. Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease: clinical significance and comparison of chomosomal abnormalities in SM and AHNMD components. Am J Hematol. 2013;88(3):219-224.

Won D, Chi HS, Shim H, Jang S, Park CJ, Lee JH. The prognostic impact of c-KIT mutation in systemic mastocytosis associated with acute myeloid leukaemia patients. Leuk Res. 2013;37(8):883-888.

Bae MH, Kim HK, Park CJ, Seo EJ, Park SH, Cho YU, Jang S, Chi HS, Lee KH. A case of systemic mastocytosis associated with acute myeloid leukemia terminating as aleukemic mast cell leukemia after allogeneic hematopoietic stem cell transplantation. Ann Lab Med. 2013;33(2):125-129.

Jawhar M, Döhner K, Kreil S, Schwaab J, Shoumariyeh K, Meggendorfer M, Span LLF, Fuhrmann S, Naumann N, Horny HP, Sotlar K, Kubuschok B, von Bubnoff N, Spiekermann K, Heuser M, Metzgeroth G, Fabarius A, Klein S, Hofmann WK, Kluin-Nelemans HC, Haferlach T, Döhner H, Cross NCP, Sperr WR, Valent P, Reiter A. KIT D816 mutated/CBF-negative acute myeloid leukemia: a poor-risk subtype associated with systemic mastocytosis. Leukemia. 2019;33(5):1124-1134.

Mimiola E, Bomben R, De Matteis G, Perbellini O, Guglielmelli P, Bonifacio M, Parisi A, Gattei V, Zamò A, Mannelli F, García Montero AC, Zanotti R. Systemic mastocytosis associated with myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis: Report of three cases. Hematol Oncol. 2019;37(5):628-633.

Craig JW, Hasserjian RP, Kim AS, Aster JC, Pinkus GS, Hornick JL, Steensma DP, Coleman Lindsley R, DeAngelo DJ, Morgan EA. Detection of the KIT(D816V) mutation in myelodysplastic and/or myeloproliferative neoplasms and acute myeloid leukemia with myelodysplasia-related changes predicts concurrent systemic mastocytosis. Mod Pathol. 2020;33(6):1135-1145.

Sperr WR, Escribano L, Jordan JH, Schernthaner GH, Kundi M, Horny HP, Valent P. Morphologic properties of neoplastic mast cells: delineation of stages of maturation and implication for cytological grading of mastocytosis. Leuk Res. 2001;25(7):529-536.

Valent P, Horny HP, Escribano L, Longley BJ, Li CY, Schwartz LB, Marone G, Nuñez R, Akin C, Sotlar K, Sperr WR, Wolff K, Brunning RD, Parwaresch RM, Austen KF, Lennert K, Metcalfe DD, Vardiman JW, Bennett JM. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res. 2001;25(7):603-625.

Valent P, Sotlar K, Sperr WR, Escribano L, Yavuz S, Reiter A, George TI, Kluin-Nelemans HC, Hermine O, Butterfield JH, Hägglund H, Ustun C, Hornick JL, Triggiani M, Radia D, Akin C, Hartmann K, Gotlib J, Schwartz LB, Verstovsek S, Orfao A, Metcalfe DD, Arock M, Horny HP. Refined diagnostic criteria and classification of mast cell leukemia (MCL) and myelomastocytic leukemia (MML): a consensus proposal. Ann Oncol. 2014;25(9):1691-1700.

Akin C, Fumo G, Yavuz AS, Lipsky PE, Neckers L, Metcalfe DD. A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib. Blood. 2004;103(8):3222-3225.

Alvarez-Twose I, González P, Morgado JM, Jara-Acevedo M, Sánchez-Muñoz L, Matito A, Mollejo M, Orfao A, Escribano L. Complete response after imatinib mesylate therapy in a patient with well-differentiated systemic mastocytosis. J Clin Oncol. 2012;30(12):e126-e129.

Chan EC, Bai Y, Kirshenbaum AS, Fischer ER, Simakova O, Bandara G, Scott LM, Wisch LB, Cantave D, Carter MC, Lewis JC, Noel P, Maric I, Gilfillan AM, Metcalfe DD, Wilson TM. Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype. J Allergy Clin Immunol. 2014;134(1):178-187.

Álvarez-Twose I, Jara-Acevedo M, Morgado JM, García-Montero A, Sánchez-Muñoz L, Teodósio C, Matito A, Mayado A, Caldas C, Mollejo M, Orfao A, Escribano L. Clinical, immunophenotypic, and molecular characteristics of well-differentiated systemic mastocytosis. J Allergy Clin Immunol. 2016;137(1):168-178.e1.

Huang L, Wang SA, Konoplev S, Bueso-Ramos CE, Thakral B, Miranda RN, Jabbour E, Medeiros LJ, Kanagal-Shamanna R. Well-differentiated systemic mastocytosis showed excellent clinical response to imatinib in the absence of known molecular genetic abnormalities: A case report. Medicine (Baltimore). 2016;95(41):e4934.

Zhao DD, Zhang L, Li WQ, Duan MH, Zhuang JL, Zhou DB. Well-differentiated systemic mastocytosis with KIT K509I mutation and uterus infiltration in an Asian woman with good response to imatinib. Chin Med J (Engl). 2019;132(16):2002-2003.

Horny HP, Sillaber C, Menke D, Kaiserling E, Wehrmann M, Stehberger B, Chott A, Lechner K, Lennert K, Valent P. Diagnostic value of immunostaining for tryptase in patients with mastocytosis. Am J Surg Pathol. 1998;22(9):1132-1140.

Horny HP, Valent P. Diagnosis of mastocytosis: general histopathological aspects, morphological criteria, and immunohistochemical findings. Leuk Res. 2001;25(7):543-551.

Jordan JH, Walchshofer S, Jurecka W, Mosberger I, Sperr WR, Wolff K, Chott A, Bühring HJ, Lechner K, Horny HP, Valent P. Immunohistochemical properties of bone marrow mast cells in systemic mastocytosis: evidence for expression of CD2, CD117/Kit, and bcl-x(L). Hum Pathol. 2001;32(5):545-552.

Sotlar K, Horny HP, Simonitsch I, Krokowski M, Aichberger KJ, Mayerhofer M, Printz D, Fritsch G, Valent P. CD25 indicates the neoplastic phenotype of mast cells: a novel immunohistochemical marker for the diagnosis of systemic mastocytosis (SM) in routinely processed bone marrow biopsy specimens. Am J Surg Pathol. 2004;28(10):1319-1325.

Krokowski M, Sotlar K, Krauth MT, Födinger M, Valent P, Horny HP. Delineation of patterns of bone marrow mast cell infiltration in systemic mastocytosis: value of CD25, correlation with subvariants of the disease, and separation from mast cell hyperplasia. Am J Clin Pathol. 2005;124(4):560-568.

Horny HP, Sotlar K, Stellmacher F, Krokowski M, Agis H, Schwartz LB, Valent P. The tryptase positive compact round cell infiltrate of the bone marrow (TROCI-BM): a novel histopathological finding requiring the application of lineage specific markers. J Clin Pathol. 2006;59(3):298-302.

Krauth MT, Agis H, Aichberger KJ, Simonitsch-Klupp I, Müllauer L, Mayerhofer M, Böhm A, Horny HP, Valent P. Immunohistochemical detection of histidine decarboxylase in neoplastic mast cells in patients with systemic mastocytosis. Hum Pathol. 2006;37(4):439-447.

Sotlar K, Cerny-Reiterer S, Petat-Dutter K, Hessel H, Berezowska S, Müllauer L, Valent P, Horny HP. Aberrant expression of CD30 in neoplastic mast cells in high-grade mastocytosis. Mod Pathol. 2011;24(4):585-595.

Morgado JM, Perbellini O, Johnson RC, Teodósio C, Matito A, Álvarez-Twose I, Bonadonna P, Zamò A, Jara-Acevedo M, Mayado A, Garcia-Montero A, Mollejo M, George TI, Zanotti R, Orfao A, Escribano L, Sánchez-Muñoz L. CD30 expression by bone marrow mast cells from different diagnostic variants of systemic mastocytosis. Histopathology. 2013;63(6):780-787.

Horny HP, Sotlar K, Valent P. Mastocytosis: immunophenotypical features of the transformed mast cells are unique among hematopoietic cells. Immunol Allergy Clin North Am. 2014;34(2):315-321.

Furitsu T, Tsujimura T, Tono T, Ikeda H, Kitayama H, Koshimizu U, Sugahara H, Butterfield JH, Ashman LK, Kanayama Y, Matsuzawa Y, Kitamura Y, Kanakura Y. Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. J Clin Invest. 1993;92(4):1736-1744.

Nagata H, Worobec AS, Oh CK, Chowdhury BA, Tannenbaum S, Suzuki Y, Metcalfe DD. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci (USA). 1995;92(23):10560-10564.

Longley BJ, Tyrrell L, Lu SZ, Ma YS, Langley K, Ding TG, Duffy T, Jacobs P, Tang LH, Modlin I. Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. Nat Genet. 1996;12(3):312-314.

Longley BJ Jr, Metcalfe DD, Tharp M, Wang X, Tyrrell L, Lu SZ, Heitjan D, Ma Y. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci (USA). 1999;96(4):1609-1614.

Fritsche-Polanz R, Jordan JH, Feix A, Sperr WR, Sunder-Plassmann G, Valent P, Födinger M. Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis. Br J Haematol. 2001;113(2):357-364.

Sotlar K, Escribano L, Landt O, Möhrle S, Herrero S, Torrelo A, Lass U, Horny HP, Bültmann B. One-step detection of c-kit point mutations using peptide nucleic acid-mediated polymerase chain reaction clamping and hybridization probes. Am J Pathol. 2003;162(3):737-746.

Garcia-Montero AC, Jara-Acevedo M, Teodosio C, Sanchez ML, Nunez R, Prados A, Aldanondo I, Sanchez L, Dominguez M, Botana LM, Sanchez-Jimenez F, Sotlar K, Almeida J, Escribano L, Orfao A. KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood. 2006;108(7):2366-2372.

Tefferi A, Levine RL, Lim KH, Abdel-Wahab O, Lasho TL, Patel J, Finke CM, Mullally A, Li CY, Pardanani A, Gilliland DG. Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. Leukemia. 2009;23(5):900-904.

Bodemer C, Hermine O, Palmérini F, Yang Y, Grandpeix-Guyodo C, Leventhal PS, Hadj-Rabia S, Nasca L, Georgin-Lavialle S, Cohen-Akenine A, Launay JM, Barete S, Feger F, Arock M, Catteau B, Sans B, Stalder JF, Skowron F, Thomas L, Lorette G, Plantin P, Bordigoni P, Lortholary O, de Prost Y, Moussy A, Sobol H, Dubreuil P. Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. J Invest Dermatol. 2010;130(3):804-815.

Wilson TM, Maric I, Simakova O, Bai Y, Chan EC, Olivares N, Carter M, Maric D, Robyn J, Metcalfe DD. Clonal analysis of NRAS activating mutations in KIT-D816V systemic mastocytosis. Haematologica. 2011;96(3):459-463.

Traina F, Visconte V, Jankowska AM, Makishima H, O'Keefe CL, Elson P, Han Y, Hsieh FH, Sekeres MA, Mali RS, Kalaycio M, Lichtin AE, Advani AS, Duong HK, Copelan E, Kapur R, Olalla Saad ST, Maciejewski JP, Tiu RV. Single nucleotide polymorphism array lesions, TET2, DNMT3A, ASXL1 and CBL mutations are present in systemic mastocytosis. PLoS One. 2012;7(8):e43090.

Schwaab J, Schnittger S, Sotlar K, Walz C, Fabarius A, Pfirrmann M, Kohlmann A, Grossmann V, Meggendorfer M, Horny HP, Valent P, Jawhar M, Teichmann M, Metzgeroth G, Erben P, Ernst T, Hochhaus A, Haferlach T, Hofmann WK, Cross NC, Reiter A. Comprehensive mutational profiling in advanced systemic mastocytosis. Blood. 2013;122(14):2460-2466.

Erben P, Schwaab J, Metzgeroth G, Horny HP, Jawhar M, Sotlar K, Fabarius A, Teichmann M, Schneider S, Ernst T, Müller MC, Giehl M, Marx A, Hartmann K, Hochhaus A, Hofmann WK, Cross NC, Reiter A. The KIT D816V expressed allele burden for diagnosis and disease monitoring of systemic mastocytosis. Ann Hematol. 2014;93(1):81-88.

Damaj G, Joris M, Chandesris O, Hanssens K, Soucie E, Canioni D, Kolb B, Durieu I, Gyan E, Livideanu C, Chèze S, Diouf M, Garidi R, Georgin-Lavialle S, Asnafi V, Lhermitte L, Lavigne C, Launay D, Arock M, Lortholary O, Dubreuil P, Hermine O. ASXL1 but not TET2 mutations adversely impact overall survival of patients suffering systemic mastocytosis with associated clonal hematologic non-mast-cell diseases. PLoS One. 2014;9(1):e85362.

Hoermann G, Gleixner KV, Dinu GE, Kundi M, Greiner G, Wimazal F, Hadzijusufovic E, Mitterbauer G, Mannhalter C, Valent P, Sperr WR. The KIT D816V allele burden predicts survival in patients with mastocytosis and correlates with the WHO type of the disease. Allergy. 2014;69(6):810-813.

Jawhar M, Schwaab J, Schnittger S, Sotlar K, Horny HP, Metzgeroth G, Müller N, Schneider S, Naumann N, Walz C, Haferlach T, Valent P, Hofmann WK, Cross NC, Fabarius A, Reiter A. Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event. Leukemia. 2015;29(5):1115-1122.

Jara-Acevedo M, Teodosio C, Sanchez-Muñoz L, Álvarez-Twose I, Mayado A, Caldas C, Matito A, Morgado JM, Muñoz-González JI, Escribano L, Garcia-Montero AC, Orfao A. Detection of the KIT D816V mutation in peripheral blood of systemic mastocytosis: diagnostic implications. Mod Pathol. 2015;28(8):1138-1149.

Arock M, Sotlar K, Akin C, Broesby-Olsen S, Hoermann G, Escribano L, Kristensen TK, Kluin-Nelemans HC, Hermine O, Dubreuil P, Sperr WR, Hartmann K, Gotlib J, Cross NC, Haferlach T, Garcia-Montero A, Orfao A, Schwaab J, Triggiani M, Horny HP, Metcalfe DD, Reiter A, Valent P. KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis. Leukemia. 2015;29(6):1223-1232.

Jawhar M, Schwaab J, Schnittger S, Meggendorfer M, Pfirrmann M, Sotlar K, Horny HP, Metzgeroth G, Kluger S, Naumann N, Haferlach C, Haferlach T, Valent P, Hofmann WK, Fabarius A, Cross NC, Reiter A. Additional mutations in SRSF2, ASXL1 and/or RUNX1 identify a high-risk group of patients with KIT D816V(+) advanced systemic mastocytosis. Leukemia. 2016;30(1):136-143.

Kristensen T, Vestergaard H, Bindslev-Jensen C, Mortz CG, Kjaer HF, Ollert M, Møller MB, Broesby-Olsen S; Mastocytosis Centre Odense University Hospital (MastOUH). Prospective evaluation of the diagnostic value of sensitive KIT D816V mutation analysis of blood in adults with suspected systemic mastocytosis. Allergy. 2017;72(11):1737-1743.

Greiner G, Gurbisz M, Ratzinger F, Witzeneder N, Simonitsch-Klupp I, Mitterbauer-Hohendanner G, Mayerhofer M, Müllauer L, Sperr WR, Valent P, Hoermann G. Digital PCR: A Sensitive and Precise Method for KIT D816V Quantification in Mastocytosis. Clin Chem. 2018;64(3):547-555.

Kristensen T, Vestergaard H, Bindslev-Jensen C, Møller MB, Broesby-Olsen S; Mastocytosis Centre Odense University Hospital (MastOUH). Clinical validation of a new commercial highly sensitive KIT D816V mutation analysis in mastocytosis. Allergy. 2020;75(6):1489-1491.

Greiner G, Gurbisz M, Ratzinger F, Witzeneder N, Class SV, Eisenwort G, Simonitsch-Klupp I, Esterbauer H, Mayerhofer M, Müllauer L, Sperr WR, Valent P, Hoermann G. Molecular quantification of tissue disease burden is a new biomarker and independent predictor of survival in mastocytosis. Haematologica. 2020;105(2):366-374.

Escribano L, Orfao A, Díaz-Agustin B, Villarrubia J, Cerveró C, López A, Marcos MA, Bellas C, Fernández-Cañadas S, Cuevas M, Sánchez A, Velasco JL, Navarro JL, Miguel JF. Indolent systemic mast cell disease in adults: immunophenotypic characterization of bone marrow mast cells and its diagnostic implications. Blood. 1998;91(8):2731-2736.

Valent P, Schernthaner GH, Sperr WR, Fritsch G, Agis H, Willheim M, Bühring HJ, Orfao A, Escribano L. Variable expression of activation-linked surface antigens on human mast cells in health and disease. Immunol Rev. 2001;179:74-81.

Baumgartner C, Sonneck K, Krauth MT, Kneidinger M, Födinger M, Hauswirth AW, Müllauer L, Valent P. Immunohistochemical assessment of CD25 is equally sensitive and diagnostic in mastocytosis compared to flow cytometry. Eur J Clin Invest. 2008;38(5):326-335.

Valent P, Cerny-Reiterer S, Herrmann H, Mirkina I, George TI, Sotlar K, Sperr WR, Horny HP. Phenotypic heterogeneity, novel diagnostic markers, and target expression profiles in normal and neoplastic human mast cells. Best Pract Res Clin Haematol. 2010;23(3):369-378.

Teodosio C, García-Montero AC, Jara-Acevedo M, Sánchez-Muñoz L, Alvarez-Twose I, Núñez R, Schwartz LB, Walls AF, Escribano L, Orfao A. Mast cells from different molecular and prognostic subtypes of systemic mastocytosis display distinct immunophenotypes. J Allergy Clin Immunol. 2010;125(3):719-726, 726.e1-726.e4.

Sánchez-Muñoz L, Teodósio C, Morgado JM, Escribano L. Immunophenotypic characterization of bone marrow mast cells in mastocytosis and other mast cell disorders. Methods Cell Biol. 2011;103:333-359.

Sotlar K, Cerny-Reiterer S, Petat-Dutter K, Hessel H, Berezowska S, Müllauer L, Valent P, Horny HP. Aberrant expression of CD30 in neoplastic mast cells in high-grade mastocytosis. Mod Pathol. 2011;24(4):585-595.

Valent P, Sotlar K, Horny HP. Aberrant expression of CD30 in aggressive systemic mastocytosis and mast cell leukemia: a differential diagnosis to consider in aggressive hematopoietic CD30-positive neoplasms. Leuk Lymphoma. 2011;52(5):740-744.

Teodosio C, García-Montero AC, Jara-Acevedo M, Alvarez-Twose I, Sánchez-Muñoz L, Almeida J, Morgado JM, Matito A, Escribano L, Orfao A. An immature immunophenotype of bone marrow mast cells predicts for multilineage D816V KIT mutation in systemic mastocytosis. Leukemia. 2012;26(5):951-958.

Morgado JM, Perbellini O, Johnson RC, Teodósio C, Matito A, Álvarez-Twose I, Bonadonna P, Zamò A, Jara-Acevedo M, Mayado A, Garcia-Montero A, Mollejo M, George TI, Zanotti R, Orfao A, Escribano L, Sánchez-Muñoz L. CD30 expression by bone marrow mast cells from different diagnostic variants of systemic mastocytosis. Histopathology. 2013;63(6):780-787.

Morgado JM, Sánchez-Muñoz L, Teodósio C, Escribano L. Identification and immunophenotypic characterization of normal and pathological mast cells. Methods Mol Biol. 2014;1192:205-226.

Blatt K, Cerny-Reiterer S, Schwaab J, Sotlar K, Eisenwort G, Stefanzl G, Hoermann G, Mayerhofer M, Schneeweiss M, Knapp S, Rülicke T, Hadzijusufovic E, Bauer K, Smiljkovic D, Willmann M, Reiter A, Horny HP, Valent P. Identification of the Ki-1 antigen (CD30) as a novel therapeutic target in systemic mastocytosis. Blood. 2015;126(26):2832-2841.

Teodosio C, Mayado A, Sánchez-Muñoz L, Morgado JM, Jara-Acevedo M, Álvarez-Twose I, García-Montero AC, Matito A, Caldas C, Escribano L, Orfao A. The immunophenotype of mast cells and its utility in the diagnostic work-up of systemic mastocytosis. J Leukoc Biol. 2015;97(1):49-59.

Schwartz LB, Metcalfe DD, Miller JS, Earl H, Sullivan T. Tryptase levels as an indicator of mast-cell activation in systemic anaphylaxis and mastocytosis. N Engl J Med. 1987;316(26):1622-1626.

Schwartz LB, Sakai K, Bradford TR, Ren S, Zweiman B, Worobec AS, Metcalfe DD. The alpha form of human tryptase is the predominant type present in blood at baseline in normal subjects and is elevated in those with systemic mastocytosis. J Clin Invest. 1995;96(6):2702-2710.

Schwartz LB, Irani AM. Serum tryptase and the laboratory diagnosis of systemic mastocytosis. Hematol Oncol Clin North Am. 2000;14(3):641-657.

Schwartz LB. Clinical utility of tryptase levels in systemic mastocytosis and associated hematologic disorders. Leuk Res. 2001;25(7):553-562.

Sperr WR, Jordan JH, Fiegl M, Escribano L, Bellas C, Dirnhofer S, Semper H, Simonitsch-Klupp I, Horny HP, Valent P. Serum tryptase levels in patients with mastocytosis: correlation with mast cell burden and implication for defining the category of disease. Int Arch Allergy Immunol. 2002;128(2):136-141.

Schwartz LB. Diagnostic value of tryptase in anaphylaxis and mastocytosis. Immunol Allergy Clin North Am. 2006;26(3):451-463.

Akin C, Soto D, Brittain E, Chhabra A, Schwartz LB, Caughey GH, Metcalfe DD. Tryptase haplotype in mastocytosis: relationship to disease variant and diagnostic utility of total tryptase levels. Clin Immunol. 2007;123(3):268-271.

Sperr WR, El-Samahi A, Kundi M, Girschikofsky M, Winkler S, Lutz D, Endler G, Rumpold H, Agis H, Sillaber C, Jäger U, Valent P. Elevated tryptase levels selectively cluster in myeloid neoplasms: a novel diagnostic approach and screen marker in clinical haematology. Eur J Clin Invest. 2009;39(10):914-923.

Alvarez-Twose I, Vañó-Galván S, Sánchez-Muñoz L, Morgado JM, Matito A, Torrelo A, Jaén P, Schwartz LB, Orfao A, Escribano L. Increased serum baseline tryptase levels and extensive skin involvement are predictors for the severity of mast cell activation episodes in children with mastocytosis. Allergy. 2012;67(6):813-821.

Matito A, Morgado JM, Álvarez-Twose I, Sánchez-Muñoz L, Pedreira CE, Jara-Acevedo M, Teodosio C, Sánchez-López P, Fernández-Núñez E, Moreno-Borque R, García-Montero A, Orfao A, Escribano L. Serum tryptase monitoring in indolent systemic mastocytosis: association with disease features and patient outcome. PLoS One. 2013;8(10):e76116.

Escribano L, Díaz-Agustín B, Bellas C, Navalón R, Nuñez R, Sperr WR, Schernthaner GH, Valent P, Orfao A. Utility of flow cytometric analysis of mast cells in the diagnosis and classification of adult mastocytosis. Leuk Res. 2001;25(7):563-570.

Escribano L, Diaz-Agustin B, López A, Núñez López R, García-Montero A, Almeida J, Prados A, Angulo M, Herrero S, Orfao A; Spanish Network on Mastocytosis (REMA). Immunophenotypic analysis of mast cells in mastocytosis: When and how to do it. Proposals of the Spanish Network on Mastocytosis (REMA). Cytometry B Clin Cytom. 2004;58(1):1-8.

Teodosio C, García-Montero AC, Jara-Acevedo M, Alvarez-Twose I, Sánchez-Muñoz L, Almeida J, Morgado JM, Matito A, Escribano L, Orfao A. An immature immunophenotype of bone marrow mast cells predicts for multilineage D816V KIT mutation in systemic mastocytosis. Leukemia. 2012;26(5):951-958.

Sánchez-Muñoz L, Teodosio C, Morgado JM, Perbellini O, Mayado A, Alvarez-Twose I, Matito A, Jara-Acevedo M, García-Montero AC, Orfao A, Escribano L. Flow cytometry in mastocytosis: utility as a diagnostic and prognostic tool. Immunol Allergy Clin North Am. 2014;34(2):297-313.

Morgado JM, Sánchez-Muñoz L, Teodósio C, Mora LME. Identification and Immunophenotypic Characterization of Normal and Pathological Mast Cells. Methods Mol Biol. 2020;2163:331-353.

Escribano L, Alvarez-Twose I, Sánchez-Muñoz L, Garcia-Montero A, Núñez R, Almeida J, Jara-Acevedo M, Teodósio C, García-Cosío M, Bellas C, Orfao A. Prognosis in adult indolent systemic mastocytosis: a long-term study of the Spanish Network on Mastocytosis in a series of 145 patients. J Allergy Clin Immunol. 2009;124(3):514-521.

Lim KH, Tefferi A, Lasho TL, Finke C, Patnaik M, Butterfield JH, McClure RF, Li CY, Pardanani A. Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors. Blood. 2009;113(23):5727-5736.

Pardanani A, Lim KH, Lasho TL, Finke C, McClure RF, Li CY, Tefferi A. Prognostically relevant breakdown of 123 patients with systemic mastocytosis associated with other myeloid malignancies. Blood. 2009;114(18):3769-3772.

Pardanani A, Tefferi A. Systemic mastocytosis in adults: a review on prognosis and treatment based on 342 Mayo Clinic patients and current literature. Curr Opin Hematol. 2010;17(2):125-32.

Pardanani A. Systemic mastocytosis in adults: 2013 update on diagnosis, risk stratification, and management. Am J Hematol. 2013;88(7):612-624.

Matito A, Morgado JM, Álvarez-Twose I, Sánchez-Muñoz L, Pedreira CE, Jara-Acevedo M, Teodosio C, Sánchez-López P, Fernández-Núñez E, Moreno-Borque R, García-Montero A, Orfao A, Escribano L. Serum tryptase monitoring in indolent systemic mastocytosis: association with disease features and patient outcome. PLoS One. 2013;8(10):e76116.

Hanssens K, Brenet F, Agopian J, Georgin-Lavialle S, Damaj G, Cabaret L, Chandesris MO, de Sepulveda P, Hermine O, Dubreuil P, Soucie E. SRSF2-p95 hotspot mutation is highly associated with advanced forms of mastocytosis and mutations in epigenetic regulator genes. Haematologica. 2014;99(5):830-835.

Damaj G, Joris M, Chandesris O, Hanssens K, Soucie E, Canioni D, Kolb B, Durieu I, Gyan E, Livideanu C, Chèze S, Diouf M, Garidi R, Georgin-Lavialle S, Asnafi V, Lhermitte L, Lavigne C, Launay D, Arock M, Lortholary O, Dubreuil P, Hermine O. ASXL1 but not TET2 mutations adversely impact overall survival of patients suffering systemic mastocytosis with associated clonal hematologic non-mast-cell diseases. PLoS One. 2014;9(1):e85362.

Pardanani A. Systemic mastocytosis in adults: 2015 update on diagnosis, risk stratification, and management. Am J Hematol. 2015;90(3):250-262.

Mayado A, Teodosio C, Garcia-Montero AC, Matito A, Rodriguez-Caballero A, Morgado JM, Muñiz C, Jara-Acevedo M, Álvarez-Twose I, Sanchez-Muñoz L, Matarraz S, Caldas C, Muñoz-González JI, Escribano L, Orfao A. Increased IL6 plasma levels in indolent systemic mastocytosis patients are associated with high risk of disease progression. Leukemia. 2016;30(1):124-130.

Jawhar M, Schwaab J, Schnittger S, Meggendorfer M, Pfirrmann M, Sotlar K, Horny HP, Metzgeroth G, Kluger S, Naumann N, Haferlach C, Haferlach T, Valent P, Hofmann WK, Fabarius A, Cross NC, Reiter A. Additional mutations in SRSF2, ASXL1 and/or RUNX1 identify a high-risk group of patients with KIT D816V(+) advanced systemic mastocytosis. Leukemia. 2016;30(1):136-143.

Pardanani AD, Lasho TL, Finke C, Zblewski DL, Abdelrahman RA, Wassie EA, Gangat N, Hanson CA, Ketterling RP, Tefferi A. ASXL1 and CBL mutations are independently predictive of inferior survival in advanced systemic mastocytosis. Br J Haematol. 2016;175(3):534-536.

Pardanani A, Lasho T, Elala Y, Wassie E, Finke C, Reichard KK, Chen D, Hanson CA, Ketterling RP, Tefferi A. Next-generation sequencing in systemic mastocytosis: Derivation of a mutation-augmented clinical prognostic model for survival. Am J Hematol. 2016;91(9):888-893.

Jawhar M, Schwaab J, Hausmann D, Clemens J, Naumann N, Henzler T, Horny HP, Sotlar K, Schoenberg SO, Cross NC, Fabarius A, Hofmann WK, Valent P, Metzgeroth G, Reiter A. Splenomegaly, elevated alkaline phosphatase and mutations in the SRSF2/ASXL1/RUNX1 gene panel are strong adverse prognostic markers in patients with systemic mastocytosis. Leukemia. 2016;30(12):2342-2350.

Naumann N, Jawhar M, Schwaab J, Kluger S, Lübke J, Metzgeroth G, Popp HD, Khaled N, Horny HP, Sotlar K, Valent P, Haferlach C, Göhring G, Schlegelberger B, Meggendorfer M, Hofmann WK, Cross NCP, Reiter A, Fabarius A. Incidence and prognostic impact of cytogenetic aberrations in patients with systemic mastocytosis. Genes Chromosomes Cancer. 2018;57(5):252-259.

Shah S, Pardanani A, Elala YC, Lasho TL, Patnaik MM, Reichard KK, Hanson CA, Ketterling RP, Tefferi A. Cytogenetic abnormalities in systemic mastocytosis: WHO subcategory-specific incidence and prognostic impact among 348 informative cases. Am J Hematol. 2018;93(12):1461-1466.

Pardanani A, Lasho TL, Reichard KK, Hanson CA, Tefferi A. World Health Organization class-independent risk categorization in mastocytosis. Blood Cancer J. 2019;9(3):29.

Jawhar M, Schwaab J, Álvarez-Twose I, Shoumariyeh K, Naumann N, Lübke J, Perkins C, Muñoz-González JI, Meggendorfer M, Kennedy V, Metzgeroth G, Fabarius A, Pfeifer D, Sotlar K, Horny HP, von Bubnoff N, Haferlach T, Cross NCP, Hofmann WK, Sperr WR, García-Montero AC, Valent P, Gotlib J, Orfao A, Reiter A. MARS: Mutation-Adjusted Risk Score for Advanced Systemic Mastocytosis. J Clin Oncol. 2019;37(31):2846-2856.

Sperr WR, Kundi M, Alvarez-Twose I, van Anrooij B, Oude Elberink JNG, Gorska A, Niedoszytko M, Gleixner KV, Hadzijusufovic E, Zanotti R, Bonadonna P, Bonifacio M, Perkins C, Illerhaus A, Elena C, Merante S, Shoumariyeh K, von Bubnoff N, Parente R, Jawhar M, Belloni Fortina A, Caroppo F, Brockow K, Zink A, Fuchs D, Kilbertus AJ, Yavuz AS, Doubek M, Hägglund H, Panse J, Sabato V, Bretterklieber A, Niederwieser D, Breynaert C, Hartmann K, Triggiani M, Nedoszytko B, Reiter A, Orfao A, Hermine O, Gotlib J, Arock M, Kluin-Nelemans HC, Valent P. International prognostic scoring system for mastocytosis (IPSM): a retrospective cohort study. Lancet Haematol. 2019;6(12):e638-e649.

Kluin-Nelemans HC, Reiter A, Illerhaus A, van Anrooij B, Hartmann K, Span LFR, Gorska A, Niedoszytko M, Lange M, Scaffidi L, Zanotti R, Bonadonna P, Perkins C, Elena C, Malcovati L, Shoumariyeh K, von Bubnoff N, Parente R, Triggiani M, Schwaab J, Jawhar M, Caroppo F, Fortina AB, Brockow K, Zink A, Fuchs D, Kilbertus A, Yavuz AS, Doubek M, Mattsson M, Hagglund H, Panse J, Sabato V, Aberer E, Niederwieser D, Breynaert C, Várkonyi J, Kennedy V, Lortholary O, Jakob T, Hermine O, Rossignol J, Arock M, Gotlib J, Valent P, Sperr WR. Prognostic impact of eosinophils in mastocytosis: analysis of 2350 patients collected in the ECNM Registry. Leukemia. 2020;34(4):1090-1101.

Akin C, Scott LM, Kocabas CN, Kushnir-Sukhov N, Brittain E, Noel P, Metcalfe DD. Demonstration of an aberrant mast-cell population with clonal markers in a subset of patients with "idiopathic" anaphylaxis. Blood. 2007;110(7):2331-2333.

Sonneck K, Florian S, Müllauer L, Wimazal F, Födinger M, Sperr WR, Valent P. Diagnostic and subdiagnostic accumulation of mast cells in the bone marrow of patients with anaphylaxis: Monoclonal mast cell activation syndrome. Int Arch Allergy Immunol. 2007;142(2):158-164.

Akin C, Valent P, Metcalfe DD. Mast cell activation syndrome: Proposed diagnostic criteria. J Allergy Clin Immunol. 2010;126(6):1099-1104.e4.

Alvarez-Twose I, González de Olano D, Sánchez-Muñoz L, Matito A, Esteban-López MI, Vega A, Mateo MB, Alonso Díaz de Durana MD, de la Hoz B, Del Pozo Gil MD, Caballero T, Rosado A, Sánchez Matas I, Teodósio C, Jara-Acevedo M, Mollejo M, García-Montero A, Orfao A, Escribano L. Clinical, biological, and molecular characteristics of clonal mast cell disorders presenting with systemic mast cell activation symptoms. J Allergy Clin Immunol. 2010;125(6):1269-1278.e2.

Hamilton MJ, Hornick JL, Akin C, Castells MC, Greenberger NJ. Mast cell activation syndrome: a newly recognized disorder with systemic clinical manifestations. J Allergy Clin Immunol. 2011;128(1):147-152.e2.

Wimazal F, Geissler P, Shnawa P, Sperr WR, Valent P. Severe life-threatening or disabling anaphylaxis in patients with systemic mastocytosis: a single-center experience. Int Arch Allergy Immunol. 2012;157(4):399-405.

Valent P, Akin C, Arock M, Brockow K, Butterfield JH, Carter MC, Castells M, Escribano L, Hartmann K, Lieberman P, Nedoszytko B, Orfao A, Schwartz LB, Sotlar K, Sperr WR, Triggiani M, Valenta R, Horny HP, Metcalfe DD. Definitions, criteria and global classification of mast cell disorders with special reference to mast cell activation syndromes: a consensus proposal. Int Arch Allergy Immunol. 2012;157(3):215-225.

Horny HP, Sotlar K, Valent P. Evaluation of mast cell activation syndromes: impact of pathology and immunohistology. Int Arch Allergy Immunol. 2012;159(1):1-5.

Valent P. Risk factors and management of severe life-threatening anaphylaxis in patients with clonal mast cell disorders. Clin Exp Allergy. 2014;44(7):914-920.

Valent P. Mast cell activation syndromes: definition and classification. Allergy. 2013;68(4):417-424.

Matito A, Alvarez-Twose I, Morgado JM, Sánchez-Muñoz L, Orfao A, Escribano L. Anaphylaxis as a clinical manifestation of clonal mast cell disorders. Curr Allergy Asthma Rep. 2014;14(8):450.

Akin C. Mast cell activation syndromes presenting as anaphylaxis. Immunol Allergy Clin North Am. 2015;35(2):277-285.

Bonadonna P, Bonifacio M, Lombardo C, Zanotti R. Hymenoptera Allergy and Mast Cell Activation Syndromes. Curr Allergy Asthma Rep. 2016;16(1):5.

Akin C. Mast cell activation syndromes. J Allergy Clin Immunol. 2017;140(2):349-355.

Valent P, Akin C, Bonadonna P, Hartmann K, Brockow K, Niedoszytko M, Nedoszytko B, Siebenhaar F, Sperr WR, Oude Elberink JNG, Butterfield JH, Alvarez-Twose I, Sotlar K, Reiter A, Kluin-Nelemans HC, Hermine O, Gotlib J, Broesby-Olsen S, Orfao A, Horny HP, Triggiani M, Arock M, Schwartz LB, Metcalfe DD. Proposed Diagnostic Algorithm for Patients with Suspected Mast Cell Activation Syndrome. J Allergy Clin Immunol Pract. 2019;7(4):1125-1133.e1.

Weiler CR, Austen KF, Akin C, Barkoff MS, Bernstein JA, Bonadonna P, Butterfield JH, Carter M, Fox CC, Maitland A, Pongdee T, Mustafa SS, Ravi A, Tobin MC, Vliagoftis H, Schwartz LB. AAAAI Mast Cell Disorders Committee Work Group Report: Mast cell activation syndrome (MCAS) diagnosis and management. J Allergy Clin Immunol. 2019;144(4):883-896.

Valent P, Bonadonna P, Hartmann K, Broesby-Olsen S, Brockow K, Butterfield JH, Triggiani M, Lyons JJ, Oude Elberink JNG, Arock M, Metcalfe DD, Akin C. Why the 20% + 2 Tryptase Formula Is a Diagnostic Gold Standard for Severe Systemic Mast Cell Activation and Mast Cell Activation Syndrome. Int Arch Allergy Immunol. 2019;180(1):44-51.

Smiljkovic D, Kiss R, Lupinek C, Hoermann G, Greiner G, Witzeneder N, Krajnik G, Trautinger F, Vrtala S, Mittermann I, Kundi M, Jilma B, Valenta R, Sperr WR, Valent P. Microarray-Based Detection of Allergen-Reactive IgE in Patients with Mastocytosis. J Allergy Clin Immunol Pract. 2020;8(8):2761-2768.e16.

Giannetti MP, Akin C, Castells M. Idiopathic Anaphylaxis: A Form of Mast Cell Activation Syndrome. J Allergy Clin Immunol Pract. 2020;8(4):1196-1201.

Valent P, Akin C, Nedoszytko B, Bonadonna P, Hartmann K, Niedoszytko M, Brockow K, Siebenhaar F, Triggiani M, Arock M, Romantowski J, Górska A, Schwartz LB, Metcalfe DD. Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine. Int J Mol Sci. 2020;21(23):9030.

Lyons JJ, Stotz SC, Chovanec J, Liu Y, Lewis KL, Nelson C, DiMaggio T, Jones N, Stone KD, Sung H, Biesecker LG, Colicos MA, Milner JD. A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number. Genet Med. 2018;20(5):503-512.

Lyons JJ. Hereditary Alpha Tryptasemia: Genotyping and Associated Clinical Features. Immunol Allergy Clin North Am. 2018;38(3):483-495.

Mendoza Alvarez LB, Barker R, Nelson C, DiMaggio T, Stone KD, Milner JD, Rosenthal JA, Petroni DH, Glover SC, Lyons JJ. Clinical response to omalizumab in patients with hereditary alpha-tryptasemia. Ann Allergy Asthma Immunol. 2020;124(1):99-100.e1.

Carrigan C, Milner JD, Lyons JJ, Vadas P. Usefulness of testing for hereditary alpha tryptasemia in symptomatic patients with elevated tryptase. J Allergy Clin Immunol Pract. 2020;8(6):2066-2067.

Lyons JJ, Chovanec J, O'Connell MP, Liu Y, Šelb J, Zanotti R, Bai Y, Kim J, Le QT, DiMaggio T, Schwartz LB, Komarow HD, Rijavec M, Carter MC, Milner JD, Bonadonna P, Metcalfe DD, Korošec P. Heritable risk for severe anaphylaxis associated with increased alpha-tryptase-encoding germline copy number at TPSAB1. J Allergy Clin Immunol. 2020:S0091-6749(20)31029-0.

Valent P, Akin C, Nedoszytko B, Bonadonna P, Hartmann K, Niedoszytko M, Brockow K, Siebenhaar F, Triggiani M, Arock M, Romantowski J, Górska A, Schwartz LB, Metcalfe DD. Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine. Int J Mol Sci. 2020;21(23):9030.

O'Connell MP, Lyons JJ. Hymenoptera venom-induced anaphylaxis and hereditary alpha-tryptasemia. Curr Opin Allergy Clin Immunol. 2020;20(5):431-437.

Greiner G, Sprinzl B, Górska A, Ratzinger F, Gurbisz M, Witzeneder N, Schmetterer KG, Gisslinger B, Uyanik G, Hadzijusufovic E, Esterbauer H, Gleixner KV, Krauth MT, Pfeilstöcker M, Keil F, Gisslinger H, Nedoszytko B, Niedoszytko M, Sperr WR, Valent P, Hoermann G. Hereditary alpha tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis. Blood. 2021, in press.

Müller UR, Horat W, Wüthrich B, Conroy M, Reisman RE. Anaphylaxis after Hymenoptera stings in three patients with urticaria pigmentosa. J Allergy Clin Immunol. 1983;72(6):685-689.

Kors JW, van Doormaal JJ, de Monchy JG. Anaphylactoid shock following Hymenoptera sting as a presenting symptom of systemic mastocytosis. J Intern Med. 1993;233(3):255-258.

Fricker M, Helbling A, Schwartz L, Müller U. Hymenoptera sting anaphylaxis and urticaria pigmentosa: clinical findings and results of venom immunotherapy in ten patients. J Allergy Clin Immunol. 1997;100(1):11-15.

Dubois AE. Mastocytosis and Hymenoptera allergy. Curr Opin Allergy Clin Immunol. 2004;4(4):291-295.

Ruëff F, Placzek M, Przybilla B. Mastocytosis and Hymenoptera venom allergy. Curr Opin Allergy Clin Immunol. 2006;6(4):284-288.

Bonadonna P, Zanotti R, Caruso B, Castellani L, Perbellini O, Colarossi S, Chilosi M, Dama A, Schiappoli M, Pizzolo G, Senna G, Passalacqua G. Allergen specific immunotherapy is safe and effective in patients with systemic mastocytosis and Hymenoptera allergy. J Allergy Clin Immunol. 2008;121(1):256-257.

González de Olano D, Alvarez-Twose I, Esteban-López MI, Sánchez-Muñoz L, de Durana MD, Vega A, García-Montero A, González-Mancebo E, Belver T, Herrero-Gil MD, Fernández-Rivas M, Orfao A, de la Hoz B, Castells MC, Escribano L. Safety and effectiveness of immunotherapy in patients with indolent systemic mastocytosis presenting with Hymenoptera venom anaphylaxis. J Allergy Clin Immunol. 2008;121(2):519-526.

Niedoszytko M, de Monchy J, van Doormaal JJ, Jassem E, Oude Elberink JN. Mastocytosis and insect venom allergy: diagnosis, safety and efficacy of venom immunotherapy. Allergy. 2009;64(9):1237-1245.

Ruëff F, Dugas-Breit S, Przybilla B. Stinging Hymenoptera and mastocytosis. Curr Opin Allergy Clin Immunol. 2009;9(4):338-342.

Bonadonna P, Zanotti R, Pagani M, Caruso B, Perbellini O, Colarossi S, Olivieri E, Dama A, Schiappoli M, Senna G, Antico A, Passalacqua G. How much specific is the association between hymenoptera venom allergy and mastocytosis? Allergy. 2009;64(9):1379-1382.

Bonadonna P, Zanotti R, Müller U. Mastocytosis and insect venom allergy. Curr Opin Allergy Clin Immunol. 2010;10(4):347-353.

Krishna MT, Ewan PW, Diwakar L, Durham SR, Frew AJ, Leech SC, Nasser SM; British Society for Allergy and Clinical Immunology. Diagnosis and management of hymenoptera venom allergy: British Society for Allergy and Clinical Immunology (BSACI) guidelines. Clin Exp Allergy. 2011;41(9):1201-1220.

González-de-Olano D, Alvarez-Twose I, Vega A, Orfao A, Escribano L. Venom immunotherapy in patients with mastocytosis and hymenoptera venom anaphylaxis. Immunotherapy. 2011;3(5):637-651.

Lieberman P, Schwartz LB. Anaphylactic reaction to white-faced hornet sting and elevated baseline (asymptomatic) serum tryptase. J Allergy Clin Immunol Pract. 2013;1(3):315.

Alvarez-Twose I, Bonadonna P, Matito A, Zanotti R, González-de-Olano D, Sánchez-Muñoz L, Morgado JM, Orfao A, Escribano L. Systemic mastocytosis as a risk factor for severe Hymenoptera sting-induced anaphylaxis. J Allergy Clin Immunol. 2013;131(2):614-615.

van Anrooij B, van der Veer E, de Monchy JG, van der Heide S, Kluin-Nelemans JC, van Voorst Vader PC, van Doormaal JJ, Oude Elberink JN. Higher mast cell load decreases the risk of Hymenoptera venom-induced anaphylaxis in patients with mastocytosis. J Allergy Clin Immunol. 2013;132(1):125-130.

Bonadonna P, Gonzalez-de-Olano D, Zanotti R, Riccio A, De Ferrari L, Lombardo C, Rogkakou A, Escribano L, Alvarez-Twose I, Matito A, Vega A, Passalacqua G. Venom immunotherapy in patients with clonal mast cell disorders: efficacy, safety, and practical considerations. J Allergy Clin Immunol Pract. 2013;1(5):474-478.

Valent P. Risk factors and management of severe life-threatening anaphylaxis in patients with clonal mast cell disorders. Clin Exp Allergy. 2014;44(7):914-920.

Niedoszytko M, Bonadonna P, Oude Elberink JN, Golden DB. Epidemiology, diagnosis, and treatment of Hymenoptera venom allergy in mastocytosis patients. Immunol Allergy Clin North Am. 2014;34(2):365-381.

Alvarez-Twose I, Zanotti R, González-de-Olano D, Bonadonna P, Vega A, Matito A, Sánchez-Muñoz L, Morgado JM, Perbellini O, García-Montero A, De Matteis G, Teodósio C, Rossini M, Jara-Acevedo M, Schena D, Mayado A, Zamò A, Mollejo M, Sánchez-López P, Cabañes N, Orfao A, Escribano L; Spanish Network on Mastocytosis (REMA); Italian Network on Mastocytosis (RIMA). Nonaggressive systemic mastocytosis (SM) without skin lesions associated with insect-induced anaphylaxis shows unique features versus other indolent SM. J Allergy Clin Immunol. 2014;133(2):520-528.

Zanotti R, Lombardo C, Passalacqua G, Caimmi C, Bonifacio M, De Matteis G, Perbellini O, Rossini M, Schena D, Busa M, Marcotulli MC, Bilò MB, Franchini M, Marchi G, Simioni L, Bonadonna P. Clonal mast cell disorders in patients with severe Hymenoptera venom allergy and normal serum tryptase levels. J Allergy Clin Immunol. 2015;136(1):135-139.

Bonadonna P, Bonifacio M, Lombardo C, Zanotti R. Hymenoptera Allergy and Mast Cell Activation Syndromes. Curr Allergy Asthma Rep. 2016;16(1):5.

Michel J, Brockow K, Darsow U, Ring J, Schmidt-Weber CB, Grunwald T, Blank S, Ollert M. Added sensitivity of component-resolved diagnosis in hymenoptera venom-allergic patients with elevated serum tryptase and/or mastocytosis. Allergy. 2016;71(5):651-660.

Ruëff F, Kroth J, Przybilla B. Risk factors in Hymenoptera venom allergy. Allergol Select. 2017;1(1):53-58.

Gruzelle V, Ramassamy M, Bulai Lidiveanu C, Didier A, Mailhol C, Guilleminault L. Safety of ultra-rush protocols for hymenoptera venom immunotherapy in systemic mastocytosis. Allergy. 2018;73(11):2260-2263.

Gülen T, Akin C. Pre-emptive Evaluation of Venom Allergy in a Patient with Systemic Mastocytosis. Acta Derm Venereol. 2018;98(1):149-150.

Vázquez-Revuelta P, González-de-Olano D. Prevalence of Clonal Mast Cell Disorders in Patients Presenting With Hymenoptera Venom Anaphylaxis Might Be Higher Than Expected. J Investig Allergol Clin Immunol. 2018;28(3):193-194.

Bonadonna P, Zanotti R, Pagani M, Bonifacio M, Scaffidi L, Olivieri E, Franchini M, Reccardini F, Costantino MT, Roncallo C, Mauro M, Boni E, Rizzini FL, Bilò MB, Marcarelli AR, Passalacqua G. Anaphylactic Reactions After Discontinuation of Hymenoptera Venom Immunotherapy: A Clonal Mast Cell Disorder Should Be Suspected. J Allergy Clin Immunol Pract. 2018;6(4):1368-1372.

O'Connell MP, Lyons JJ. Hymenoptera venom-induced anaphylaxis and hereditary alpha-tryptasemia. Curr Opin Allergy Clin Immunol. 2020;20(5):431-437.

Rafii M, Firooznia H, Golimbu C, Balthazar E. Pathologic fracture in systemic mastocytosis. Radiographic spectrum and review of the literature. Clin Orthop Relat Res. 1983;(180):260-267.

Osteoporosis associated with mastocytosis confined to bone: report of two cases. Harvey JA, Anderson HC, Borek D, Morris D, Lukert BP. Bone. 1989;10(4):237-241.

Mastocytosis and osteoporosis. Watts RA, Scott DG, Crisp AJ. Br J Rheumatol. 1992;31(10):715.

Weide R, Ehlenz K, Lorenz W, Walthers E, Klausmann M, Pflüger KH. Successful treatment of osteoporosis in systemic mastocytosis with interferon alpha-2b. Ann Hematol. 1996 ;72(1):41-43.

Johansson C, Roupe G, Lindstedt G, Mellström D. Bone density, bone markers and bone radiological features in mastocytosis. Age Ageing. 1996;25(1):1-7.

Lehmann T, Beyeler C, Lämmle B, Hunziker T, Vock P, Olah AJ, Dahinden C, Gerber NJ. Severe osteoporosis due to systemic mast cell disease: successful treatment with interferon alpha-2B. Br J Rheumatol. 1996;35(9):898-900.

Marshall A, Kavanagh RT, Crisp AJ. The effect of pamidronate on lumbar spine bone density and pain in osteoporosis secondary to systemic mastocytosis. Br J Rheumatol. 1997;36(3):393-396.

Brumsen C, Hamdy NA, Papapoulos SE. Osteoporosis and bone marrow mastocytosis: dissociation of skeletal responses and mast cell activity during long-term bisphosphonate therapy. J Bone Miner Res. 2002;17(4):567-569.

Lim AY, Ostor AJ, Love S, Crisp AJ. Systemic mastocytosis: a rare cause of osteoporosis and its response to bisphosphonate treatment. Ann Rheum Dis. 2005;64(6):965-966.

Krauth MT, Födinger M, Rebuzzi L, Greul R, Chott A, Valent P. Aggressive systemic mastocytosis with sarcoma-like growth in the skeleton, leukemic progression, and partial loss of mast cell differentiation antigens. Haematologica. 2007;92(12):e126-e129.

Benucci M, Bettazzi C, Bracci S, Fabiani P, Monsacchi L, Cappelletti C, Manfredi M, Ciolli S. Systemic mastocytosis with skeletal involvement: a case report and review of the literature. Clin Cases Miner Bone Metab. 2009;6(1):66-70.

Krüger A, Hamann C, Brendel C, Ramaswamy A, Schnabel M, Neubauer A, Hofbauer LC. Multimodal therapy for vertebral involvement of systemic mastocytosis. Spine (Phila Pa 1976). 2009;34(17):E626-E628.

Barete S, Assous N, de Gennes C, Grandpeix C, Feger F, Palmerini F, Dubreuil P, Arock M, Roux C, Launay JM, Fraitag S, Canioni D, Billemont B, Suarez F, Lanternier F, Lortholary O, Hermine O, Francès C. Systemic mastocytosis and bone involvement in a cohort of 75 patients. Ann Rheum Dis. 2010;69(10):1838-1841.

Rossini M, Zanotti R, Bonadonna P, Artuso A, Caruso B, Schena D, Vecchiato D, Bonifacio M, Viapiana O, Gatti D, Senna G, Riccio A, Passalacqua G, Pizzolo G, Adami S. Bone mineral density, bone turnover markers and fractures in patients with indolent systemic mastocytosis. Bone. 2011;49(4):880-885.

Laroche M, Livideanu C, Paul C, Cantagrel A. Interferon alpha and pamidronate in osteoporosis with fracture secondary to mastocytosis. Am J Med. 2011;124(8):776-778.

van der Veer E, van der Goot W, de Monchy JG, Kluin-Nelemans HC, van Doormaal JJ. High prevalence of fractures and osteoporosis in patients with indolent systemic mastocytosis. Allergy. 2012;67(3):431-438.

Rabenhorst A, Christopeit B, Leja S, Gerbaulet A, Kleiner S, Förster A, Raap U, Wickenhauser C, Hartmann K. Serum levels of bone cytokines are increased in indolent systemic mastocytosis associated with osteopenia or osteoporosis. J Allergy Clin Immunol. 2013;132(5):1234-1237.e7.

Rossini M, Zanotti R, Viapiana O, Tripi G, Idolazzi L, Biondan M, Orsolini G, Bonadonna P, Adami S, Gatti D. Zoledronic acid in osteoporosis secondary to mastocytosis. Am J Med. 2014;127(11):1127.e1-1127.e4.

van der Veer E, Arends S, van der Hoek S, Versluijs JB, de Monchy JGR, Oude Elberink JNG, van Doormaal JJ. Predictors of new fragility fractures after diagnosis of indolent systemic mastocytosis. J Allergy Clin Immunol. 2014;134(6):1413-1421.

Rossini M, Zanotti R, Viapiana O, Tripi G, Orsolini G, Idolazzi L, Bonadonna P, Schena D, Escribano L, Adami S, Gatti D.Bone involvement and osteoporosis in mastocytosis. Immunol Allergy Clin North Am. 2014;34(2):383-396.

Alpay Kanıtez N, Erer B, Doğan Ö, Büyükbabani N, Baykal C, Sindel D, Tanakol R, Yavuz AS. Osteoporosis and osteopathy markers in patients with mastocytosis. Turk J Haematol. 2015;32(1):43-50.

Rossini M, Zanotti R, Orsolini G, Tripi G, Viapiana O, Idolazzi L, Zamò A, Bonadonna P, Kunnathully V, Adami S, Gatti D. Prevalence, pathogenesis, and treatment options for mastocytosis-related osteoporosis. Osteoporos Int. 2016;27(8):2411-2421.

Artuso A, Caimmi C, Tripi G, Viapiana O, Bonifacio M, Idolazzi L, Gavioli I, Gatti D, Zanotti R, Rossini M. Longitudinal Evaluation of Bone Mineral Density and Bone Metabolism Markers in Patients with Indolent Systemic Mastocytosis Without Osteoporosis. Calcif Tissue Int. 2017;100(1):40-46.

Bonifacio M, Zanotti R, Guardalben E, Mimiola E, Scognamiglio F, Perbellini O, De Matteis G, Escribano L, Bonadonna P, Grigolato D, Bissoli S, Parisi A, Zamò A, Ambrosetti A, Rossini M. Multiple large osteolytic lesions in a patient with systemic mastocytosis: a challenging diagnosis. Clin Case Rep. 2017;5(12):1988-1991.

Orsolini G, Gavioli I, Tripi G, Viapiana O, Gatti D, Idolazzi L, Zanotti R, Rossini M. Denosumab for the Treatment of Mastocytosis-Related Osteoporosis: A Case Series. Calcif Tissue Int. 2017;100(6):595-598.

Orsolini G, Viapiana O, Rossini M, Bonifacio M, Zanotti R. Bone Disease in Mastocytosis. Immunol Allergy Clin North Am. 2018;38(3):443-454.

Degboé Y, Eischen M, Apoil PA, Mailhol C, Dubreuil P, Hermine O, Paul C, Bulai Livideanu C, Laroche M. Higher prevalence of vertebral fractures in systemic mastocytosis, but not in cutaneous mastocytosis and idiopathic mast cell activation syndrome. Osteoporos Int. 2019;30(6):1235-1241.

Riffel P, Schwaab J, Lutz C, Naumann N, Metzgeroth G, Fabarius A, Schoenberg SO, Hofmann WK, Valent P, Reiter A, Jawhar M. An increased bone mineral density is an adverse prognostic factor in patients with systemic mastocytosis. J Cancer Res Clin Oncol. 2020;146(4):945-951.

Bouvard B, Pascaretti-Grizon F, Legrand E, Lavigne C, Audran M, Chappard D. Bone lesions in systemic mastocytosis: Bone histomorphometry and histopathological mechanisms. Morphologie. 2020;104(345):97-108.

Onnes MC, van Doormaal JJ, van der Veer E, Versluijs JB, Arends S, Oude Elberink HNG. Fracture Risk Reduction by Bisphosphonates in Mastocytosis? J Allergy Clin Immunol Pract. 2020;8(10):3557-3564.

Akin C, Brockow K, D'Ambrosio C, Kirshenbaum AS, Ma Y, Longley BJ, Metcalfe DD. Effects of tyrosine kinase inhibitor STI571 on human mast cells bearing wild-type or mutated c-kit. Exp Hematol. 2003;31(8):686-692.

Akin C, Fumo G, Yavuz AS, Lipsky PE, Neckers L, Metcalfe DD. A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib. Blood. 2004;103(8):3222-3225.

Gotlib J, Berubé C, Growney JD, Chen CC, George TI, Williams C, Kajiguchi T, Ruan J, Lilleberg SL, Durocher JA, Lichy JH, Wang Y, Cohen PS, Arber DA, Heinrich MC, Neckers L, Galli SJ, Gilliland DG, Coutré SE. Activity of the tyrosine kinase inhibitor PKC412 in a patient with mast cell leukemia with the D816V KIT mutation. Blood. 2005;106(8):2865-2870.

Gleixner KV, Mayerhofer M, Aichberger KJ, Derdak S, Sonneck K, Böhm A, Gruze A, Samorapoompichit P, Manley PW, Fabbro D, Pickl WF, Sillaber C, Valent P. PKC412 inhibits in vitro growth of neoplastic human mast cells expressing the D816V-mutated variant of KIT: comparison with AMN107, imatinib, and cladribine (2CdA) and evaluation of cooperative drug effects. Blood. 2006;107(2):752-759.

Gleixner KV, Mayerhofer M, Sonneck K, Gruze A, Samorapoompichit P, Baumgartner C, Lee FY, Aichberger KJ, Manley PW, Fabbro D, Pickl WF, Sillaber C, Valent P. Synergistic growth-inhibitory effects of two tyrosine kinase inhibitors, dasatinib and PKC412, on neoplastic mast cells expressing the D816V-mutated oncogenic variant of KIT. Haematologica. 2007;92(11):1451-1459.

Verstovsek S, Tefferi A, Cortes J, O'Brien S, Garcia-Manero G, Pardanani A, Akin C, Faderl S, Manshouri T, Thomas D, Kantarjian H. Phase II study of dasatinib in Philadelphia chromosome-negative acute and chronic myeloid diseases, including systemic mastocytosis. Clin Cancer Res. 2008;14(12):3906-3915.

Krauth MT, Mirkina I, Herrmann H, Baumgartner C, Kneidinger M, Valent P. Midostaurin (PKC412) inhibits immunoglobulin E-dependent activation and mediator release in human blood basophils and mast cells. Clin Exp Allergy. 2009;39(11):1711-1720.

Vega-Ruiz A, Cortes JE, Sever M, Manshouri T, Quintás-Cardama A, Luthra R, Kantarjian HM, Verstovsek S. Phase II study of imatinib mesylate as therapy for patients with systemic mastocytosis. Leuk Res. 2009;33(11):1481-1484.

Alvarez-Twose I, González P, Morgado JM, Jara-Acevedo M, Sánchez-Muñoz L, Matito A, Mollejo M, Orfao A, Escribano L. Complete response after imatinib mesylate therapy in a patient with well-differentiated systemic mastocytosis. J Clin Oncol. 2012;30(12):e126-129.

Valent P, Cerny-Reiterer S, Hoermann G, Sperr WR, Müllauer L, Mannhalter C, Pehamberger H. Long-lasting complete response to imatinib in a patient with systemic mastocytosis exhibiting wild type KIT. Am J Blood Res. 2014;4(2):93-100.

de Melo Campos P, Machado-Neto JA, Scopim-Ribeiro R, Visconte V, Tabarroki A, Duarte AS, Barra FF, Vassalo J, Rogers HJ, Lorand-Metze I, Tiu RV, Costa FF, Olalla Saad ST, Traina F. Familial systemic mastocytosis with germline KIT K509I mutation is sensitive to treatment with imatinib, dasatinib and PKC412. Leuk Res. 2014;38(10):1245-1251.

Hochhaus A, Baccarani M, Giles FJ, le Coutre PD, Müller MC, Reiter A, Santanastasio H, Leung M, Novick S, Kantarjian HM. Nilotinib in patients with systemic mastocytosis: analysis of the phase 2, open-label, single-arm nilotinib registration study. Hochhaus A, Baccarani M, Giles FJ, le Coutre PD, Müller MC, Reiter A, Santanastasio H, Leung M, Novick S, Kantarjian HM. J Cancer Res Clin Oncol. 2015;141(11):2047-2060.

Alvarez-Twose I, Matito A, Morgado JM, Sánchez-Muñoz L, Jara-Acevedo M, García-Montero A, Mayado A, Caldas C, Teodósio C, Muñoz-González JI, Mollejo M, Escribano L, Orfao A. Imatinib in systemic mastocytosis: a phase IV clinical trial in patients lacking exon 17 KIT mutations and review of the literature. Oncotarget. 2016;8(40):68950-68963.

Gotlib J, Kluin-Nelemans HC, George TI, Akin C, Sotlar K, Hermine O, Awan FT, Hexner E, Mauro MJ, Sternberg DW, Villeneuve M, Huntsman Labed A, Stanek EJ, Hartmann K, Horny HP, Valent P, Reiter A. Efficacy and Safety of Midostaurin in Advanced Systemic Mastocytosis. N Engl J Med. 2016;374(26):2530-2541.

Chandesris MO, Damaj G, Canioni D, Brouzes C, Lhermitte L, Hanssens K, Frenzel L, Cherquaoui Z, Durieu I, Durupt S, Gyan E, Beyne-Rauzy O, Launay D, Faure C, Hamidou M, Besnard S, Diouf M, Schiffmann A, Niault M, Jeandel PY, Ranta D, Gressin R, Chantepie S, Barete S, Dubreuil P, Bourget P, Lortholary O, Hermine O; CEREMAST Study Group. Midostaurin in Advanced Systemic Mastocytosis. N Engl J Med. 2016;374(26):2605-2607.

Valent P, Akin C, Hartmann K, George TI, Sotlar K, Peter B, Gleixner KV, Blatt K, Sperr WR, Manley PW, Hermine O, Kluin-Nelemans HC, Arock M, Horny HP, Reiter A, Gotlib J. Midostaurin: a magic bullet that blocks mast cell expansion and activation. Ann Oncol. 2017;28(10):2367-2376.

Lortholary O, Chandesris MO, Bulai Livideanu C, Paul C, Guillet G, Jassem E, Niedoszytko M, Barete S, Verstovsek S, Grattan C, Damaj G, Canioni D, Fraitag S, Lhermitte L, Georgin Lavialle S, Frenzel L, Afrin LB, Hanssens K, Agopian J, Gaillard R, Kinet JP, Auclair C, Mansfield C, Moussy A, Dubreuil P, Hermine O. Masitinib for treatment of severely symptomatic indolent systemic mastocytosis: a randomised, placebo-controlled, phase 3 study. Lancet. 2017;389(10069):612-620.

Schneeweiss M, Peter B, Bibi S, Eisenwort G, Smiljkovic D, Blatt K, Jawhar M, Berger D, Stefanzl G, Herndlhofer S, Greiner G, Hoermann G, Hadzijusufovic E, Gleixner KV, Bettelheim P, Geissler K, Sperr WR, Reiter A, Arock M, Valent P. The KIT and PDGFRA switch-control inhibitor DCC-2618 blocks growth and survival of multiple neoplastic cell types in advanced mastocytosis. Haematologica. 2018;103(5):799-809.

DeAngelo DJ, George TI, Linder A, Langford C, Perkins C, Ma J, Westervelt P, Merker JD, Berube C, Coutre S, Liedtke M, Medeiros B, Sternberg D, Dutreix C, Ruffie PA, Corless C, Graubert TJ, Gotlib J. Efficacy and safety of midostaurin in patients with advanced systemic mastocytosis: 10-year median follow-up of a phase II trial. Leukemia. 2018;32(2):470-478.

Gotlib J, Gerds AT, Bose P, Castells MC, Deininger MW, Gojo I, Gundabolu K, Hobbs G, Jamieson C, McMahon B, Mohan SR, Oehler V, Oh S, Padron E, Pancari P, Papadantonakis N, Pardanani A, Podoltsev N, Rampal R, Ranheim E, Rein L, Snyder DS, Stein BL, Talpaz M, Thota S, Wadleigh M, Walsh K, Bergman MA, Sundar H. Systemic Mastocytosis, Version 2.2019, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2018;16(12):1500-1537.

Tzogani K, Yu Y, Meulendijks D, Herberts C, Hennik P, Verheijen R, Wangen T, Dahlseng Håkonsen G, Kaasboll T, Dalhus M, Bolstad B, Salmonson T, Gisselbrecht C, Pignatti F. European Medicines Agency review of midostaurin (Rydapt) for the treatment of adult patients with acute myeloid leukaemia and systemic mastocytosis. ESMO Open. 2019;4(6):e000606.

Martynova A, Nael A, O Neill C, Ramsingh G, Merchant A, Yaghmour B, Yaghmour G. Aggressive systemic mastocytosis: midostaurin is safe, feasible and associated with durable response post-haploidentical allogeneic stem cell transplant. Br J Haematol. 2019;186(5):e139-e141.

Lübke J, Naumann N, Kluger S, Schwaab J, Metzgeroth G, Evans E, Gardino AK, Lengauer C, Hofmann WK, Fabarius A, Cross NCP, Reiter A, Jawhar M. Inhibitory effects of midostaurin and avapritinib on myeloid progenitors derived from patients with KIT D816V positive advanced systemic mastocytosis. Leukemia. 2019;33(5):1195-1205.

Reiter A, George TI, Gotlib J. New developments in diagnosis, prognostication, and treatment of advanced systemic mastocytosis. Blood. 2020;135(16):1365-1376.

Hartmann K, Gotlib J, Akin C, Hermine O, Awan FT, Hexner E, Mauro MJ, Menssen HD, Redhu S, Knoll S, Sotlar K, George TI, Horny HP, Valent P, Reiter A, Kluin-Nelemans HC. Midostaurin improves quality of life and mediator-related symptoms in advanced systemic mastocytosis. J Allergy Clin Immunol. 2020;146(2):356-366.e4.

Gotlib J, Kluin-Nelemans HC, Akin C, Hartmann K, Valent P, Reiter A. Practical Management of Adverse Events in Patients With Advanced Systemic Mastocytosis Receiving Midostaurin. Expert Opin Biol Ther. 2020, in press.

Födinger M, Fritsch G, Winkler K, Emminger W, Mitterbauer G, Gadner H, Valent P, Mannhalter C. Origin of human mast cells: development from transplanted hematopoietic stem cells after allogeneic bone marrow transplantation. Blood. 1994;84(9):2954-2959.

Treatment of systemic mast-cell disease with cladribine. Tefferi A, Li CY, Butterfield JH, Hoagland HC. N Engl J Med. 2001;344(4):307-309.

Kluin-Nelemans HC, Oldhoff JM, Van Doormaal JJ, Van 't Wout JW, Verhoef G, Gerrits WB, van Dobbenburgh OA, Pasmans SG, Fijnheer R. Cladribine therapy for systemic mastocytosis. Blood. 2003;102(13):4270-4276.

Chen TY, Chen JS, Huang WT, Su WC, Tsao CJ. Rapid engraftment of mast cells of donor origin in a case of acute myeloid leukemia with mast cell leukemia after allogeneic stem cell transplantation. Bone Marrow Transplant. 2003;32(1):111-114.

Ustun C, Corless CL, Savage N, Fiskus W, Manaloor E, Heinrich MC, Lewis G, Ramalingam P, Kepten I, Jillella A, Bhalla K. Chemotherapy and dasatinib induce long-term hematologic and molecular remission in systemic mastocytosis with acute myeloid leukemia with KIT D816V. Leuk Res. 2009;33(5):735-741.

Lim KH, Pardanani A, Butterfield JH, Li CY, Tefferi A. Cytoreductive therapy in 108 adults with systemic mastocytosis: Outcome analysis and response prediction during treatment with interferon-alpha, hydroxyurea, imatinib mesylate or 2-chlorodeoxyadenosine. Am J Hematol. 2009;84(12):790-794.

Valent P, Sperr WR, Akin C. How I treat patients with advanced systemic mastocytosis. Blood. 2010;116(26):5812-5817.

Böhm A, Sonneck K, Gleixner KV, Schuch K, Pickl WF, Blatt K, Peter B, Herrmann H, Schernthaner GH, Pehamberger H, Rabitsch W, Sperr WR, Valent P. In vitro and in vivo growth-inhibitory effects of cladribine on neoplastic mast cells exhibiting the imatinib-resistant KIT mutation D816V. Exp Hematol. 2010;38(9):744-755.

Bae MH, Kim HK, Park CJ, Seo EJ, Park SH, Cho YU, Jang S, Chi HS, Lee KH. A case of systemic mastocytosis associated with acute myeloid leukemia terminating as aleukemic mast cell leukemia after allogeneic hematopoietic stem cell transplantation. Ann Lab Med. 2013;33(2):125-129.

Ustun C, Reiter A, Scott BL, Nakamura R, Damaj G, Kreil S, Shanley R, Hogan WJ, Perales MA, Shore T, Baurmann H, Stuart R, Gruhn B, Doubek M, Hsu JW, Tholouli E, Gromke T, Godley LA, Pagano L, Gilman A, Wagner EM, Shwayder T, Bornhäuser M, Papadopoulos EB, Böhm A, Vercellotti G, Van Lint MT, Schmid C, Rabitsch W, Pullarkat V, Legrand F, Yakoub-Agha I, Saber W, Barrett J, Hermine O, Hagglund H, Sperr WR, Popat U, Alyea EP, Devine S, Deeg HJ, Weisdorf D, Akin C, Valent P. Hematopoietic stem-cell transplantation for advanced systemic mastocytosis. J Clin Oncol. 2014;32(29):3264-3274.

Barete S, Lortholary O, Damaj G, Hirsch I, Chandesris MO, Elie C, Hamidou M, Durieu I, Suarez F, Grosbois B, Limal N, Gyan E, Larroche C, Guillet G, Kahn JE, Casassus P, Amazzough K, Coignard-Biehler H, Georgin-Lavialle S, Lhermitte L, Fraitag S, Canioni D, Dubreuil P, Hermine O. Long-term efficacy and safety of cladribine (2-CdA) in adult patients with mastocytosis. Blood. 2015;126(8):1009-1016.

Akin C. Cladribine for mastocytosis: benefits and risks. Blood. 2015;126(8):931-932.

Ustun C, Gotlib J, Popat U, Artz A, Litzow M, Reiter A, Nakamura R, Kluin-Nelemans HC, Verstovsek S, Gajewski J, Perales MA, George T, Shore T, Sperr W, Saber W, Kota V, Yavuz AS, Pullarkat V, Rogosheske J, Hogan W, Van Besien K, Hagglund H, Damaj G, Arock M, Horny HP, Metcalfe DD, Deeg HJ, Devine S, Weisdorf D, Akin C, Valent P. Consensus Opinion on Allogeneic Hematopoietic Cell Transplantation in Advanced Systemic Mastocytosis. Biol Blood Marrow Transplant. 2016;22(8):1348-1356.

Alvarez-Twose I, Martínez-Barranco P, Gotlib J, García-Montero A, Morgado JM, Jara-Acevedo M, Merker JD, Peñalver FJ, Matito A, Hou Y, Sánchez-Muñoz L, Mayado A, Mollejo M, Escribano L, Orfao A. Complete response to gemtuzumab ozogamicin in a patient with refractory mast cell leukemia. Leukemia. 2016;30(8):1753-1756.

Gotlib J, Gerds AT, Bose P, Castells MC, Deininger MW, Gojo I, Gundabolu K, Hobbs G, Jamieson C, McMahon B, Mohan SR, Oehler V, Oh S, Padron E, Pancari P, Papadantonakis N, Pardanani A, Podoltsev N, Rampal R, Ranheim E, Rein L, Snyder DS, Stein BL, Talpaz M, Thota S, Wadleigh M, Walsh K, Bergman MA, Sundar H. Systemic Mastocytosis, Version 2.2019, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2018;16(12):1500-1537.

Yamada A, Kinoshita M, Sawa D, Saito Y, Kamimura S, Miyachi H, Moritake H. Long-term Remission of Acute Myeloid Leukemia Developed From Systemic Mastocytosis by Conventional Chemotherapy. J Pediatr Hematol Oncol. 2019;41(6):e402-e404.

Martynova A, Nael A, O Neill C, Ramsingh G, Merchant A, Yaghmour B, Yaghmour G. Aggressive systemic mastocytosis: midostaurin is safe, feasible and associated with durable response post-haploidentical allogeneic stem cell transplant. Br J Haematol. 2019;186(5):e139-e141.

Kubasch AS, Franke GN, Aldaoud A, Weibl K, Jentzsch M, Sabri O, Horny HP, Fend F, Behre G, Platzbecker U, Vucinic V. Allogeneic Hematopoietic Stem Cell Transplantation in a Rare Case of Tonsillar Mast Cell Sarcoma. Front Oncol. 2020;10:219.

Haas M, Houot R, Llamas-Gutierrez F, Boulland ML, Roussel M, Lamy T, Fest T, Pastoret C. Discordant Response of Systemic Mastocytosis Associated With Myelodysplastic Syndrome After Midostaurin and Allogeneic Hematopoietic Stem-cell Transplantation. Hemasphere. 2020;4(6):e478.

Hägglund H, Yavuz AS, Dreimane A, Malm C, Sundin A, Sander B, Nilsson G. Graft-versus-mastocytosis effect after donor lymphocyte infusion: Proof of principle. Eur J Haematol. 2020, in press.

Valent P, Akin C, Sperr WR, Escribano L, Arock M, Horny HP, Bennett JM, Metcalfe DD. Aggressive systemic mastocytosis and related mast cell disorders: current treatment options and proposed response criteria. Leuk Res. 2003;27(7):635-641.

Valent P, Akin C, Escribano L, Födinger M, Hartmann K, Brockow K, Castells M, Sperr WR, Kluin-Nelemans HC, Hamdy NA, Lortholary O, Robyn J, van Doormaal J, Sotlar K, Hauswirth AW, Arock M, Hermine O, Hellmann A, Triggiani M, Niedoszytko M, Schwartz LB, Orfao A, Horny HP, Metcalfe DD. Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria. Eur J Clin Invest. 2007;37(6):435-453.

Valent P. Classification and response criteria in mastocytosis: is there a need to revise? Expert Rev Hematol. 2010;3(3):247-249.

Gotlib J, Pardanani A, Akin C, Reiter A, George T, Hermine O, Kluin-Nelemans H, Hartmann K, Sperr WR, Brockow K, Schwartz LB, Orfao A, Deangelo DJ, Arock M, Sotlar K, Horny HP, Metcalfe DD, Escribano L, Verstovsek S, Tefferi A, Valent P. International Working Group-Myeloproliferative Neoplasms Research and Treatment (IWG-MRT) & European Competence Network on Mastocytosis (ECNM) consensus response criteria in advanced systemic mastocytosis. Blood. 2013;121(13):2393-2401.

Vaughan ST, Jones GN. Systemic mastocytosis presenting as profound cardiovascular collapse during anaesthesia. Anaesthesia. 1998;53(8):804-807.

Damodar S, John CN, Gopalakrishnan G, Nair S, Samuel R, Thomas M, Shetty DP. Mast cell disease: surgical and anesthetic implications. J Pediatr Hematol Oncol. 2006;28(7):446-449.

Villeneuve V, Kaufman I, Weeks S, Deschamps A. Anesthetic management of a labouring parturient with urticaria pigmentosa. Can J Anaesth. 2006;53(4):380-384.

Carter MC, Uzzaman A, Scott LM, Metcalfe DD, Quezado Z. Pediatric mastocytosis: routine anesthetic management for a complex disease. Anesth Analg. 2008;107(2):422-427.

Konrad FM, Schroeder TH. Anaesthesia in patients with mastocytosis. Acta Anaesthesiol Scand. 2009;53(2):270-271.

Chaar CI, Bell RL, Duffy TP, Duffy AJ. Guidelines for safe surgery in patients with systemic mastocytosis. Am Surg. 2009;75(1):74-80.

Ahmad N, Evans P, Lloyd-Thomas AR. Anesthesia in children with mastocytosis--a case based review. Paediatr Anaesth. 2009;19(2):97-107.

Klein NJ, Misseldine S. Anesthetic considerations in pediatric mastocytosis: a review. J Anesth. 2013;27(4):588-598.

Ulbrich F, Engelstädter H, Wittau N, Steinmann D. Anaesthetic management of emergency caesarean section in a parturient with systemic mastocytosis. Int J Obstet Anesth. 2013;22(3):243-246.

Tew S, Taicher BM. Avoiding Cardiovascular Collapse: Pediatric Cutaneous Mastocytosis and Anesthetic Challenges. A Case Rep. 2015;5(10):179-181.

Matito A, Morgado JM, Sánchez-López P, Álvarez-Twose I, Sánchez-Muñoz L, Orfao A, Escribano L. Management of Anesthesia in Adult and Pediatric Mastocytosis: A Study of the Spanish Network on Mastocytosis (REMA) Based on 726 Anesthetic Procedures. Int Arch Allergy Immunol. 2015;167(1):47-56.

Hermans MAW, Arends NJT, Gerth van Wijk R, van Hagen PM, Kluin-Nelemans HC, Oude Elberink HNG, Pasmans SGMA, van Daele PLA. Management around invasive procedures in mastocytosis: An update. Ann Allergy Asthma Immunol. 2017;119(4):304-309.

Ishii K, Miyoshi H, Akiyama D, Makita T, Sumikawa K, Murata H, Hara T. Anesthetic management of patients with systemic mastocytosis. J Clin Anesth. 2018;50:61.

Carter MC, Metcalfe DD, Matito A, Escribano L, Butterfield JH, Schwartz LB, Bonadonna P, Zanotti R, Triggiani M, Castells M, Brockow K. Adverse reactions to drugs and biologics in patients with clonal mast cell disorders: A Work Group Report of the Mast Cells Disorder Committee, American Academy of Allergy, Asthma & Immunology. J Allergy Clin Immunol. 2019;143(3):880-893.

Sherwin RP, Kern WH, Jones JC. Solitary mast cell granuloma (histiocytoma) of the lung. A histologic, tissue culture and time-lapse cinematographic study. Cancer 1965;18:634-638.

Charrette EE, Mariano AV, Laforet EG. Solitary mast cell ‘tumor’ of the lung. its place in the spectrum of mast cell disease. Arch Intern Med. 1966;118(4):358-362.

Kudo H, Morinaga S, Shimosata Y, Nogudi M, Mizutani Y, Asamura H, Naruke O. Solitary mast cell tumor of the lung. Cancer 1988;61:2089-2094.

Kettelhut BV, Metcalfe DD. Pediatric mastocytosis. J Invest Dermatol. 1991;96(3 Suppl):15S-18S.

Worobec AS, Akin C, Scott LM, Metcalfe DD. Mastocytosis complicating pregnancy. Obstet Gynecol. 2000;95(3):391-395.

Krauth MT, Födinger M, Rebuzzi L, Greul R, Chott A, Valent P. Aggressive systemic mastocytosis with sarcoma-like growth in the skeleton, leukemic progression, and partial loss of mast cell differentiation antigens. Haematologica. 2007;92(12):e126-e129.

Angus J, Leach IH, Grant J, Ravenscroft JC. Systemic mastocytosis with diffuse cutaneous involvement and haematological disease presenting in utero treated unsuccessfully with vincristine. Clin Exp Dermatol. 2008;33(1):36-39.

Castells M, Metcalfe DD, Escribano L. Diagnosis and treatment of cutaneous mastocytosis in children: practical recommendations. Am J Clin Dermatol. 2011;12(4):259-270.

Matito A, Álvarez-Twose I, Morgado JM, Sánchez-Muñoz L, Orfao A, Escribano L. Clinical impact of pregnancy in mastocytosis: a study of the Spanish Network on Mastocytosis (REMA) in 45 cases. Int Arch Allergy Immunol. 2011;156(1):104-111.

Ulbrich F, Engelstädter H, Wittau N, Steinmann D. Anaesthetic management of emergency caesarean section in a parturient with systemic mastocytosis. Int J Obstet Anesth. 2013;22(3):243-246.

An unusual tumour of the lung. Ayadi L, Abid N, Makni S, Bahri I, Frikha I, Sellami-Boudawara T. Pathologica. 2015;107(1):14-18.

Méni C, Bruneau J, Georgin-Lavialle S, Le Saché de Peufeilhoux L, Damaj G, Hadj-Rabia S, Fraitag S, Dubreuil P, Hermine O, Bodemer C. Paediatric mastocytosis: a systematic review of 1747 cases. Br J Dermatol. 2015;172(3):642-651.

Ciach K, Niedoszytko M, Abacjew-Chmylko A, Pabin I, Adamski P, Leszczynska K, Preis K, Olszewska H, Wydra DG, Hansdorfer-Korzon R. Pregnancy and Delivery in Patients with Mastocytosis Treated at the Polish Center of the European Competence Network on Mastocytosis (ECNM). PLoS One. 2016;11(1):e0146924.

Huang A, Fiadorchanka N, Brar K, Balderacchi JL, Glick SA. In utero presentation of aggressive systemic mastocytosis in a neonate. Br J Dermatol. 2017;177(5):1439-1441.

Lei D, Akin C, Kovalszki A. Management of Mastocytosis in Pregnancy: A Review. J Allergy Clin Immunol Pract. 2017;5(5):1217-1223.

Smiljkovic D, Kiss R, Lupinek C, Hoermann G, Greiner G, Witzeneder N, Krajnik G, Trautinger F, Vrtala S, Mittermann I, Kundi M, Jilma B, Valenta R, Sperr WR, Valent P. Microarray-Based Detection of Allergen-Reactive IgE in Patients with Mastocytosis. J Allergy Clin Immunol Pract. 2020;8(8):2761-2768.e16.

Valent P, Akin C, Gleixner KV, Sperr WR, Reiter A, Arock M, Triggiani M. Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches. Int J Mol Sci. 2019;20(12):2976.

Valent P, Akin C, Bonadonna P, Brockow K, Niedoszytko M, Nedoszytko B, Butterfield JH, Alvarez-Twose I, Sotlar K, Schwaab J, Jawhar M, Reiter A, Castells M, Sperr WR, Kluin-Nelemans HC, Hermine O, Gotlib J, Zanotti R, Broesby-Olsen S, Horny HP, Triggiani M, Siebenhaar F, Orfao A, Metcalfe DD, Arock M, Hartmann K. Risk and management of patients with mastocytosis and MCAS in the SARS-CoV-2 (COVID-19) pandemic: Expert opinions. J Allergy Clin Immunol. 2020;146(2):300-306.

Castells MC, Phillips EJ. Maintaining Safety with SARS-CoV-2 Vaccines. N Engl J Med. 2020, in press.