我如何诊治系统性肥大细胞增多症

陈苏宁; 杨小飞

doi:10.13201/j.issn.1004-2806.2025.01.007

我如何诊治系统性肥大细胞增多症

陈苏宁^1, ,,
杨小飞¹

- 国家血液系统疾病临床医学研究中心江苏省血液研究所苏州大学附属第一医院(江苏苏州, 215006)

详细信息

作者简介:
陈苏宁，苏州大学附属第一医院教授、主任医师，科技部中青年科技创新领军人才、百千万人才工程有突出贡献中青年专家、国务院特殊津贴获得者。任国家血液系统疾病临床医学研究中心副主任、江苏省血研所副所长、中华医学会血液学分会委员、白血病淋巴瘤学组副组长，主持美国白血病淋巴瘤协会项目、国家自然科学基金项目等10余项。在国内外期刊发表论文100余篇。作为主要完成人获国家科技进步奖二等奖2项、省部级科技进步一等奖3项。

通讯作者: 陈苏宁，E-mail：chensuning@sina.com

中图分类号: R55

收稿日期: 2024-11-15

刊出日期: 2025-01-01

How do I diagnose and treat systemic mastocytosis

CHEN Suning^1, ,,
YANG Xiaofei¹

- National Clinical Research Center for Hematologic Diseases, Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, 215006, China

More Information

Corresponding author: CHEN Suning, E-mail: chensuning@sina.com

Received Date: 15 November 2024

Publish Date: 01 January 2025

摘要

摘要: 系统性肥大细胞增多症(SM)是一类罕见病，临床表现复杂多变，可以累及多个系统而首诊于不同临床科室，有着较高的漏诊和误诊率。约90%的SM患者携带KIT基因活化性突变，近年来，以阿伐替尼为代表的针对KIT基因突变的酪氨酸激酶抑制剂研究取得进展，SM疗效显著提升。因此，早期识别诊断SM患者，及时予以靶向治疗，可有效缓解患者症状，改善患者生活质量，延长生存。本文通过介绍2例典型病例诊治经过结合SM最新研究进展分享了本中心SM的临床诊疗经验。
- 系统性肥大细胞增多症 /
- 阿伐替尼 /
- KIT
Abstract: Systemic mastocytosis(SM) is a rare disease with complex and variable clinical manifestations that can affect multiple systems and present initially in different clinical departments, resulting in a high rate of misdiagnosis and missed diagnosis. Approximately 90% of SM patients carry activating mutations in the KIT gene, and recent advances in research on tyrosine kinase inhibitors targeting the KIT gene mutation, such as Avapritinib, have significantly improved the efficacy of SM treatment. Therefore, early identification and diagnosis of SM patients and timely targeted therapy can effectively alleviate symptoms and improve quality of life, prolong survival. This article shares the clinical diagnostic and treatment experience of SM patients at our center through the introduction of two typical cases and the latest research progress of SM.
- systemic mastocytosis /
- avapritinib /
- KIT

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参考文献(64)

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