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Annual Review of Pathology: Mechanisms of Disease

Volume 18, 2023

New Insights into the Pathogenesis of Mastocytosis: Emerging Concepts in Diagnosis and Therapy

Abstract

Mastocytosis is a heterogeneous group of neoplasms defined by a numerical increase and accumulation of clonal mast cells (MCs) in various organ systems. The disease may present as cutaneous mastocytosis or systemic mastocytosis (SM). On the basis of histopathological and molecular features, clinical variables, and organ involvement, SM is divided into indolent SM, smoldering SM, SM with an associated hematologic neoplasm, aggressive SM, and MC leukemia. Each variant is defined by unique diagnostic criteria and a unique spectrum of clinical presentations. A key driver of MC expansion and disease evolution is the oncogenic machinery triggered by mutant forms of . The genetic background, additional somatic mutations, and comorbidities also contribute to the course and prognosis. Patients with SM may also suffer from mediator-related symptoms or even an MC activation syndrome. This article provides an update of concepts on the genetics, etiology, and pathology of mastocytosis, with emphasis on diagnostic criteria and new treatment concepts.

Keyword(s): anaphylaxis, etiology, genetic risk, KIT D816V, mast cells, mastocytosis, prognostication, targeted therapies, tryptase
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/content/journals/10.1146/annurev-pathmechdis-031521-042618
2023-01-24
2024-04-29
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/content/journals/10.1146/annurev-pathmechdis-031521-042618
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New Insights into the Pathogenesis of Mastocytosis: Emerging Concepts in Diagnosis and Therapy
Annual Review of Pathology: Mechanisms of Disease 18, 361 (2023); https://doi.org/10.1146/annurev-pathmechdis-031521-042618
/content/journals/10.1146/annurev-pathmechdis-031521-042618
/content/journals/10.1146/annurev-pathmechdis-031521-042618
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