Mastocytosis.

IF 76.9 1区医学 Q1 MEDICINE, GENERAL & INTERNAL

Nature Reviews Disease Primers Pub Date : 2025-04-24 DOI:10.1038/s41572-025-00611-8

Cem Akin, Michel Arock, Melody C Carter, Tracy I George, Peter Valent

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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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肥大细胞增多症是一种克隆性髓系疾病，由肥大细胞在各器官系统的异常生长和积累所定义。该病分为皮肤肥大细胞增多症、全身肥大细胞增多症和肥大细胞肉瘤。SM进一步分为几种非高级和高级形式。皮肤肥大细胞增多症和非晚期SM的预后大多良好，而晚期SM和肥大细胞肉瘤的预后和生存率较差。在过去的15年中，肥大细胞瘤的诊断、预后和治疗取得了重大进展。肥大细胞增多症的治疗包括对症治疗，包括抗肥大细胞介质药物，晚期疾病患者和非晚期疾病患者的细胞减少剂，以及识别和预防合并症，如骨质疏松症和过敏反应。靶向kit - d816v的药物，如midoshuin或avapritinib的临床前和临床开发，在改善SM患者的管理、生活质量和生存方面具有里程碑式的意义。这些药物在晚期SM患者中诱导主要反应甚至缓解，并导致有症状患者的介质相关症状和生活质量的快速改善。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Nature Reviews Disease Primers Medicine-General Medicine

CiteScore

76.70

自引率

0.20%

发文量

期刊介绍： Nature Reviews Disease Primers, a part of the Nature Reviews journal portfolio, features sections on epidemiology, mechanisms, diagnosis, management, and patient quality of life. The editorial team commissions top researchers — comprising basic scientists and clinical researchers — to write the Primers, which are designed for use by early career researchers, medical students and principal investigators. Each Primer concludes with an Outlook section, highlighting future research directions. Covered medical specialties include Cardiology, Dermatology, Ear, Nose and Throat, Emergency Medicine, Endocrinology, Gastroenterology, Genetic Conditions, Gynaecology and Obstetrics, Hepatology, Haematology, Infectious Diseases, Maxillofacial and Oral Medicine, Nephrology, Neurology, Nutrition, Oncology, Ophthalmology, Orthopaedics, Psychiatry, Respiratory Medicine, Rheumatology, Sleep Medicine, and Urology.