侵袭性系统性肥大细胞增生症伴KIT D816V突变1例并文献复习  

AGGRESSIVE SYSTEMIC MASTOCYTOSIS WITH KIT D816V MUTATION:A CASE REPORT AND LITERATURE REVIEW

作　　者：吴春燕 武智敏 周春晓 吴少玲[2] 顾华丽[3] WU Chunyan;WU Zhimin;ZHOU Chunxiao;WU Shaoling;GU Huali(Department of Medicine,Qingdao University,Qingdao 266071,China)

机构地区：[1]青岛大学医学部,山东青岛266071 [2]青岛大学附属医院血液内科,山东青岛266071 [3]青岛大学附属医院急诊科,山东青岛266071

出　　处：《青岛大学学报（医学版）》2023年第4期607-609,共3页Journal of Qingdao University(Medical Sciences)

基　　金：山东省自然科学基金资助项目(ZR2019MH096)。

摘　　要：目的探讨侵袭性系统性肥大细胞增生症伴KIT D816V突变的临床特点、诊治方法和经验。方法报告1例侵袭性系统性肥大细胞增生症伴KIT D816V突变病人临床资料,并复习相关文献,总结其病因、临床特点、诊治经过及治疗经验。结果病人经伊马替尼及阿伐替尼治疗后症状稍有改善。结论侵袭性系统性肥大细胞增生症伴KIT D816V突变病例较为少见,容易漏诊,应尽早明确分型诊断以指导治疗。Objective To investigate the clinical features,diagnosisand treatment methods,and experience of aggressive systemic mastocytosis with KIT D816V mutation.Methods This article reports a patient with aggressive systemic mastocytosis with KIT D816V mutation and conducts a literature review to summarize its etiology,clinical features,diagnosis,and treatment experience.Results The patient was improved slightly after treatment with imatinib and avapritinib.Conclusion Aggressive systemicmastocytosis with KIT D816V mutation is relatively rare in clinical practice,which often leads to missed diagnosis,and typing and diagnosis should be confirmedas early as possible to guide treatment.

关 键 词：肥大细胞增生症 系统性 阿伐替尼 病例报告 

分 类 号：R551.3[医药卫生—血液循环系统疾病]