骨髓增生异常肿瘤伴单纯5q-进展为肥大细胞白血病-骨髓增生异常肿瘤1例临床分析并文献复习  

Clinical analysis of a case with 5q-myelodysplastic neoplasms progressed to mast cell leukemia-myelodysplastic neoplasm and literature review

作　　者：于婷 陈莎[1] 季杰[1] 袁颖[2] 牛挺[1] Yu Ting;Chen Sha;Ji Jie;Yuan Ying;Niu Ting(Department of Hematology,West China Hospital of Sichuan University,Chengdu 610041,Sichuan Province,China;Department of Hematology,Guangyuan Central Hospital,Guangyuan 628000,Sichuan Province,China)

机构地区：[1]四川大学华西医院血液内科,成都610041 [2]广元市中心医院血液内科,广元628000

出　　处：《国际输血及血液学杂志》2023年第3期239-247,共9页International Journal of Blood Transfusion and Hematology

基　　金：国家血液系统疾病临床医学研究中心转化研究课题(2021WWB03)。

摘　　要：目的探讨骨髓增生异常肿瘤(MDS)伴单纯5q-进展为肥大细胞白血病(MCL)-MDS患者的临床特征及诊治,并进行相关文献复习。方法选择2021年4月6日广元市中心医院血液科收治的1例MDS伴单纯5q-进展为MCL-MDS的66岁男性患者为研究对象。采用回顾性分析方法,对本例患者的病史、临床特征、实验室及辅助检查结果等临床资料进行分析。根据患者临床表现、实验室及辅助检查结果,对其进行诊断和治疗。对本例患者的随访截至2022年12月9日。本研究以"骨髓增生异常综合征""骨髓增生异常肿瘤""肥大细胞白血病""原癌基因蛋白质类c-kit""5q-""ASXL1""myelodysplastic syndromes""myelodysplastic neoplasm""mast-cell leukemia""proto-oncogene proteins c-kit"为中、英文关键词,在中国知网数据库、万方数据服务知识平台及PubMed数据库中检索MCL-MDS患者相关文献,并对文献报道的MCL-MDS患者进行分析和总结。文献检索时间为2001年1月1日至2022年12月8日。本研究获得广元市中心医院伦理委员会审批(批准文号:GYZXLL202379),并与患者签署临床研究知情同意书。结果①本例患者因"气促、乏力5个月,加重1+个月"入院。院外就诊时发现血红蛋白(Hb)值显著降低,予悬浮红细胞输注后症状好转,但是气促、乏力症状反复。②入院后本例患者血常规检查结果示,大细胞性贫血,Hb值为41 g/L,平均红细胞体积(MCV)为119.7 fL。腹部彩色多普勒超声检查结果示,轻度脾大。骨髓细胞形态学检查和骨髓病理活组织检查结果示,红系、粒系、巨核系均存在病态造血。核型分析结果显示5q-。MDS全基因组芯片检测结果显示,5q-嵌合。二代测序结果示,存在ASXL1、KIT突变。③本例患者被诊断为MDS伴单纯5q-、KIT及ASXL1突变。予地西他滨(10 mg/d×7 d,6周为1个疗程)+来那度胺(10 mg/d×21 d,4周为1个疗程)治疗7个疗程后,患者病情好转,脱离输血依赖,Hb值维持为88~90 g/ObjectiveTo investigate clinical characteristics,diagnosis and treatment of myelodysplastic neoplasms(MDS)with simple 5q-progressed to mast cell leukemia(MCL)-MDS,and to review related literature.MethodsOn April 6,2021,a case of 66 year-old male patient of MDS with simple 5q-progressed to MCL-MDS who was admitted to Department of Hematology,Guangyuan Central Hospital was selected as the study subject.Clinical data such as medical history,clinical features,laboratory and auxiliary examination results were retrospectively analyzed.This patient was diagnosed and treated according to the clinical manifestations,laboratory and auxiliary examination results.This patient was followed up until December 9,2022.With"myelodysplastic syndrome""myelodysplastic neoplasm""mast cell leukemia""proto-oncogene proteins c-kit""5q-""ASXL1"as Chinese and English keywords,literature related to MCL-MDS patients was searched in China National Knowledge Infrastructure database,Wanfang Data knowledge service platform and PubMed database,and literature reports of MCL-MDS patients were summarized and analyzed.The period of literature search was from January 1,2001 to December 8,2022.This study was approved by the Ethic Committee of Guangyuan Central Hospital(Approval No.GYZXLL202379)and the informed consent for clinical study was signed with the patient.Results①This patient was admitted to hospital due to"shortness of breath and weakness for 5 months,aggravated for more than a month".Hemoglobin(Hb)value was significantly reduced outside the hospital,and the symptoms improved after transfusion of suspended red blood cells,but the symptoms of shortness of breath and fatigue were recurred.②After admission,this patient′s blood routine examination results showed large cell anemia,and Hb value was 41 g/L,mean corpuscular volume(MCV)was 119.7 fl.Abdominal color Doppler ultrasound results showed mild splenomegaly.Results of bone marrow cytology and pathological biopsy showed that the erythrocyte,granulocyte and megakaryocyte all had pathologic

关 键 词：骨髓增生异常综合征 白血病 肥大细胞 原癌基因蛋白质类c-kit 5q- ASXL1 

分 类 号：R733.3[医药卫生—肿瘤]