Mastocytosis

Theoharides, T. C., Valent, P. & Akin, C. Mast cells, mastocytosis, and related disorders. N. Engl. J. Med. 373, 163–172 (2015).

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Ustun, C. et al. Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice. Haematologica 101, 1133–1143 (2016).

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Valent, P., Akin, C. & Metcalfe, D. D. Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts. Blood 129, 1420–1427 (2017).

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Valent, P. et al. New insights into the pathogenesis of mastocytosis: emerging concepts in diagnosis and therapy. Annu. Rev. Pathol. 18, 361–386 (2023).

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Valent, P. et al. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk. Res. 25, 603–625 (2001). Basic diagnostic consensus criteria and classification of mastocytosis: these criteria were reviewed, discussed and approved in the Year 2000 Working Conference on Mastocytosis.

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Metcalfe, D. D. Mast cells and mastocytosis. Blood 112, 946–956 (2008).

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Hartmann, K. et al. 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. 137, 35–45 (2016).

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Valent, P. et al. Advances in the classification and treatment of mastocytosis: current status and outlook toward the future. Cancer Res. 77, 1261–1270 (2017).

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Radia, D. H. & Moonim, M. T. Update on diagnostic approaches and therapeutic strategies in systemic mastocytosis. Best Pract. Res. Clin. Haematol. 35, 101380 (2022).

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Lim, K. H. et al. Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors. Blood 113, 5727–5736 (2009).

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Pardanani, A. et al. Prognostically relevant breakdown of 123 patients with systemic mastocytosis associated with other myeloid malignancies. Blood 114, 3769–3772 (2009).

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Sperr, W. R. et al. International Prognostic Scoring System for Mastocytosis (IPSM): a retrospective cohort study. Lancet Haematol. 6, e638–e649 (2019). Comprehensive international prognostic scoring system for SM, including non-advanced and advanced forms of the disease.

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Reiter, A., George, T. I. & Gotlib, J. New developments in diagnosis, prognostication, and treatment of advanced systemic mastocytosis. Blood 135, 1365–1376 (2020).

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Valent, P., Akin, C., Sperr, W. R., Horny, H. P. & Metcalfe, D. D. Smouldering mastocytosis: a novel subtype of systemic mastocytosis with slow progression. Int. Arch. Allergy Immunol. 127, 137–139 (2002).

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Tefferi, A., Shah, S., Reichard, K. K., Hanson, C. A. & Pardanani, A. Smoldering mastocytosis: survival comparisons with indolent and aggressive mastocytosis. Am. J. Hematol. 94, E1–E2 (2019).

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Zanotti, R. et al. Refined diagnostic criteria for bone marrow mastocytosis: a proposal of the European competence network on mastocytosis. Leukemia 36, 516–524 (2022). This article provides revised definitions and refined diagnostic consensus criteria for bone marrow mastocytosis: based on this study, bone marrow mastocytosis becomes an independent separate variant of SM in the updated WHO classification 2022.

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Valent, P. et al. Updated diagnostic criteria and classification of mast cell disorders: a consensus proposal. Hemasphere 5, e646 (2021). Updated diagnostic consensus criteria and classification of mastocytosis: this paper provided the basis for the revised WHO classification of mastocytosis 2022.

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Akin, C. et al. A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib. Blood 103, 3222–3225 (2004). This article is the first description of WDSM and reports that imatinib can induce major clinical responses in patients with KIT-D816V-negative mastocytosis: in this particular responder, neoplastic mast cells displayed the KIT germline mutation Phe522Cys.

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Alvarez-Twose, I. et al. Clinical, immunophenotypic, and molecular characteristics of well-differentiated systemic mastocytosis. J. Allergy Clin. Immunol. 137, 168–178.e161 (2016).

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Khoury, J. D. et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia 36, 1703–1719 (2022). Revised WHO classification of myeloid neoplasms including mastocytosis 2022.

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Loghavi, S. et al. Fifth Edition of the World Health Classification of tumors of the hematopoietic and lymphoid tissue: myeloid neoplasms. Mod. Pathol. 37, 100397 (2024). Revised WHO classification of myeloid neoplasms (WHO blue book) including mastocytosis.

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Arber, D. A. et al. International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data. Blood 140, 1200–1228 (2022).

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Wang, S. A. et al. The international consensus classification of eosinophilic disorders and systemic mastocytosis. Am. J. Hematol. 98, 1286–1306 (2023). An international consensus classification provides an alternative classification of mastocytosis with slightly modified diagnostic criteria deviating marginally from the WHO classification.

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Nagata, H. et al. 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 92, 10560–10564 (1995).

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Longley, B. J. et al. Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. Nat. Genet. 12, 312–314 (1996).

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Fritsche-Polanz, R. et al. Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis. Br. J. Haematol. 113, 357–364 (2001).

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Arock, M. et al. KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis. Leukemia 29, 1223–1232 (2015). Basic consensus recommendations for the use and application of molecular markers and assays, including KIT mutational studies, in patients with mastocytosis.

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Muñoz-González, J. I. et al. Frequency and prognostic impact of KIT and other genetic variants in indolent systemic mastocytosis. Blood 134, 456–468 (2019).

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Hoermann, G. et al. Standards of genetic testing in the diagnosis and prognostication of systemic mastocytosis in 2022: recommendations of the EU-US cooperative group. J. Allergy Clin. Immunol. Pract. 10, 1953–1963 (2022).

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Bergstrom, A., Hagglund, H., Berglund, A., Nilsson, G. & Lambe, M. Epidemiology of mastocytosis: a population-based study (Sweden). Acta Oncol. 63, 44–50 (2024).

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Schuler, C. F. T. et al. Prevalence of mastocytosis and Hymenoptera venom allergy in the United States. J. Allergy Clin. Immunol. 148, 1316–1323 (2021).

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