【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。更多还原

【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.更多还原