伴NUP98-TOP1融合基因复发/难治性急性髓细胞白血病1例临床分析并文献复习  

Clinical analysis of a case of relapsed/refractory acute myeloid leukemia with NUP98-TOP1 fusion gene and literature review

作　　者：郭孟乔 刘娜 郭方宇 程辉 唐古生 龚胜蓝 Guo Mengqiao;Liu Na;Guo Fangyu;Cheng Hui;Tang Gusheng;Gong Shenglan(Department of Medical Laboratory,Shanghai Fourth People′s Hospital Affilated to Tongji University School of Medicine,Shanghai 200434,China;Department of Hematology,Changhai Hospital,Naval Medical University,Shanghai 200433,China)

机构地区：[1]同济大学附属第四人民医院检验科,上海200434 [2]海军军医大学附属第一医院(上海长海医院)血液科,上海200433

出　　处：《国际输血及血液学杂志》2023年第6期503-510,共8页International Journal of Blood Transfusion and Hematology

基　　金：海军军医大学第一附属医院"深蓝123"军事医学研究专项(2020SLZ022)。

摘　　要：目的探讨伴核孔蛋白(NUP)98-DNA拓扑异构酶(TOP)1融合基因复发/难治性急性髓细胞白血病(AML)患者的临床、实验室检查特点及诊疗策略,并进行相关文献复习。方法选择2022年2月15日海军军医大学附属第一医院(上海长海医院)收治的1例39岁伴NUP98-TOP1融合基因复发/难治性AML女性患者为研究对象(患者1)。采用回顾性分析方法,对其病史、临床特征、实验室检查结果等进行分析。根据患者1的临床表现、实验室检查结果,对其进行诊断和治疗。对患者1随访时间截至2022年6月30日。本研究以"核孔蛋白98""NUP98""t(11;20)""NUP98-TOP1融合基因""染色体易位""急性髓细胞白血病""AML""nucleoporin 98""NUP98-TOP1 fusion gene""chromosome translocation""acute myeloid leukemia"为中、英文关键词,检索中国知网数据库、维普数据知识服务平台、万方数据知识服务平台和PubMed数据库中相关文献,总结伴t(11;20)易位AML患者相关病例的诊疗。检索时间为上述数据库建库至2022年6月30日。本研究符合2013年修订的《世界医学协会赫尔辛基宣言》要求,并取得受试者知情同意。结果①患者1因"无明显诱因发热,伴胸闷、恶心1周"于当地医院就诊,经检查诊断为AML,因外院治疗缓解后复发,遂转入本院进一步治疗。②入院后,患者1血常规检查结果示,白细胞计数(WBC)、红细胞计数、血红蛋白(Hb)值、血小板计数分别为5.34×10^(9)/L、3.91×10^(12)/L、143 g/L和154×10^(9)/L。骨髓细胞形态学检查结果示未缓解。染色体核型为46,XX,t(11;20)(p15;q12)[10]/46,idem,del(9)(q12q22)[4]/46,XX[6];荧光原位杂交(FISH)结果示,NUP98重排,NUP98-TOP1融合基因;逆转录PCR结果示,NUP98-TOP1、TOP1-NUP98融合基因均呈阳性。③患者1被诊断为伴NUP98-TOP1融合基因复发/难治性AML。予患者1小剂量HAG[高三尖杉酯碱1 mg/(m^(2)·d),d1~7;阿糖胞苷10 mg/(m^(2)·d),d1~7;重组人粒细胞集落刺激因子2000μg/(m^(ObjectiveTo investigate clinical features,laboratory examination characteristics,diagnosis and treatment of relapsed/refractory acute myeloid leukemia(AML)with nucleoporin(NUP98)-DNA topoisomerase(TOP)1 fusion gene,and review relevant literature.MethodsOn October 2021,a case of 39 year-old female patient with relapsed/refractory AML with NUP98-TOP1 fusion gene admitted to Changhai Hospital,Naval Military Medical University was selected as the study subject(patient 1).Retrospective analysis method was used to analyze the clinical data such as medical history,clinical features,laboratory auxiliary examination results,etc.Patient 1 was diagnosed and treated according to clinical manifestations and laboratory and auxiliary test results.Patient 1 was followed up until June 30,2022.With"NUP98""t(11;20)""AML""nucleoporin 98""NUP98-TOP1 fusion gene""chromosome translocation""acute myeloid leukemia"as Chinese and English keywords,China National Knowledge Infrastructure database,Weipu Data Knowledge Service Platform,Wanfang Data Knowledge Service Platform and PubMed Database were searched.Retrieval time was from the above database inception to June 30,2022.The clinical manifestations,treatment and prognosis of patients related to AML patient with t(11;20)translocation were analyzed and summarized.This study was in line with World Medical Association Declaration of Helsinki revised in 2013 and informed contents were obtained from the subject.Results①Due to"fever without obvious cause,chest tightness and nausea for 1 week",patient 1 was admitted and diagnosed as AML in the local hospital,and was transferred to our hospital for further treatment because relapse after remission.②After admission,results of the patient′s blood routine examination showed that the white blood count(WBC),red blood cell count,hemoglobin(Hb)value,platelet count were 5.34×10^(9)/L,3.91×10^(12)/L,143 g/L,and 154×10^(9)/L,respectively.Morphology result of bone marrow cells showed no remission.Karyotype was 46,XX,t(11;20)(p15;q12)[10]/46,idem,de

关 键 词：核孔复合蛋白质类 易位 遗传 白血病 髓样 急性 核孔蛋白98 DNA拓扑异构酶类 Ⅰ型 NUP98-TOP1融合基因 染色体易位 

分 类 号：R733.71[医药卫生—肿瘤]