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Review
. 2025 Apr 24;11(1):30.
doi: 10.1038/s41572-025-00611-8.

Mastocytosis

Cem Akin  1 , Michel Arock  2 , Melody C Carter  3 , Tracy I George  4 , Peter Valent  5   6
Affiliations
Review

Mastocytosis

Cem Akin et al. Nat Rev Dis Primers. .

Abstract

Mastocytosis is a spectrum of clonal myeloid disorders defined by abnormal growth and accumulation of mast cells in various organ systems. The disease is divided into cutaneous mastocytosis, systemic mastocytosis (SM) and mast cell sarcoma. SM is further categorized into several non-advanced and advanced forms. The prognosis of cutaneous mastocytosis and non-advanced SM is mostly favourable, whereas prognosis and survival in advanced SM and mast cell sarcoma are poor. During the past 15 years, major advances have been made in the diagnosis, prognosis and management of patients with mast cell neoplasms. Management of mastocytosis consists of symptomatic therapy, including anti-mast cell mediator drugs, and cytoreductive agents for patients with advanced disease and selected individuals with non-advanced disease, as well as recognition and prevention of comorbidities such as osteoporosis and anaphylaxis. The preclinical and clinical development of KIT-D816V-targeting drugs, such as midostaurin or avapritinib, mark a milestone in improving management, the quality of life and survival in patients with SM. These agents induce major responses or even remission in people with advanced SM and lead to rapid improvement of mediator-related symptoms and quality of life in symptomatic patients.

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Conflict of interest statement

Competing interests: P.V. declares consultancy (honoraria) for Novartis, Blueprint, Cogent, Incyte, AOP Orphan, Stemline and Daiichi Sankyo. M.A. receives research grants from Blueprint; honoraria from AB Science, Blueprint and Novartis. T.I.G. declares consultancy for Incyte, Blueprint, Celgene/BMS and Cogent Biosciences. C.A. declares consultancy (honoraria) for Blueprint, Novartis, Cogent and Telios; research grant from Blueprint, Cogent and Telios; Investigator in clinical trial for Blueprint, Cogent and Telios. M.C.C. declares no competing interests.

References

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    1. Ustun, C. et al. Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice. Haematologica 101, 1133–1143 (2016). - PubMed - DOI
    1. Valent, P., Akin, C. & Metcalfe, D. D. Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts. Blood 129, 1420–1427 (2017). - PubMed - PMC - DOI
    1. Valent, P. et al. New insights into the pathogenesis of mastocytosis: emerging concepts in diagnosis and therapy. Annu. Rev. Pathol. 18, 361–386 (2023). - PubMed - DOI
    1. 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. - PubMed - DOI

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