☆ 4.3 Review

The international consensus classification of mastocytosis and related entities

VIRCHOWS ARCHIV (2023)

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Summary: The study analyzed 103 skin biopsies from patients with mastocytosis, determining the specific features of mast cell distribution and highlighting the percentage of mast cells as the most significant diagnostic criterion. Diagnosis of mastocytosis differed in difficulty between adults and children, with additional signs potentially useful in challenging cases.

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Summary: This study used highly sensitive flow cytometry to detect the presence of circulating tumor mast cells (CTMCs) in various types of systemic mastocytosis (SM) patients. CTMCs were found in higher counts in advanced SM and smoldering SM patients, but in lower counts in indolent SM and bone marrow mastocytosis patients. The presence of CTMCs was associated with adverse features, prognostic scores, and survival in SM patients.

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Summary: This review discusses the diagnosis and prognostication of mast cell neoplasms, focusing on clinically relevant germline and somatic gene variants. The authors propose a diagnostic algorithm that combines genetic markers, clinical and histopathologic criteria to establish the diagnosis and prognosis in systemic mastocytosis (SM).

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Summary: Bone marrow mastocytosis (BMM) is a provisional variant of indolent systemic mastocytosis (ISM) defined by bone marrow involvement and absence of skin lesions in the current WHO classification. BMM patients were older, predominantly male, had lower tryptase levels, lower neoplastic mast cell burden, and a higher frequency of allergic reactions triggered mainly by Hymenoptera compared to typical ISM patients. The 10-year progression-free survival of BMM was higher than that of typical ISM, and specific risk factors for progression in BMM patients were identified.

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Summary: This study revealed that genotypes have a significant impact on the severity of anaphylaxis in humans, particularly in association with H alpha T. The prevalence of H alpha T was higher in healthy individuals and controls with nonatopic disease, and it was particularly prominent in systemic mastocytosis and idiopathic anaphylaxis, suggesting it as a potential risk factor for severe allergic reactions.

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Summary: Systemic mastocytosis (SM) is a disease caused by the clonal proliferation of abnormal mast cells in extra-cutaneous organs, diagnosed primarily based on the presence of abnormal mast cells in the bone marrow. Risk stratification is important for treatment planning, with options including small-molecule inhibitors targeting mutant-KIT for advanced cases. Treatment goals involve symptom control and prevention of complications such as anaphylaxis in indolent cases, while cytoreductive therapy may be necessary for those with advanced disease.

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