Avapritinib for systemic mastocytosis with an associated myelodysplastic/myeloproliferative neoplasm: a case report and literature review
10.3760/cma.j.cn121090-20241011-00389
- VernacularTitle:阿伐替尼治疗系统性肥大细胞增多症合并骨髓增生异常综合征/骨髓增殖性肿瘤1例报告并文献复习
- Author:
Yuwei TANG
1
;
Lijuan PAN
;
Fuhui LI
;
Zhijian XIAO
;
Zefeng XU
Author Information
1. 中国医学科学院血液病医院（中国医学科学院血液学研究所），血液与健康全国重点实验室，国家血液系统疾病临床医学研究中心，细胞生态海河实验室，天津 300020
- Publication Type:Journal Article
- From:
Chinese Journal of Hematology
2025;46(5):468-472
- CountryChina
- Language:Chinese
-
Abstract:
Systemic mastocytosis (SM) with an associated myelodysplastic/myeloproliferative neoplasm (MDS/MPN) is a rare subtype of myeloid neoplasms. Avapritinib, a potent and selective inhibitor of KIT D816V, is approved for treating advanced systemic mastocytosis (AdvSM). We report a case of a patient with SM and an associated MDS/MPN treated with avapritinib. The patient achieved sustained complete remission (CR) of SM, with persistent molecular negativity for the KIT D816V mutation, but ultimately succumbed to disease progression to chronic myelomonocytic leukemia (CMML). Although avapritinib, a novel targeted therapy, has significantly improved outcomes for SM, the efficacy of treatment for the associated hematologic neoplasm in patients with SM-AHN may be the primary determinant of long-term overall survival and progression-free survival. This report includes a review of relevant literature to provide insights into the clinical diagnosis and management of this rare entity.
