伴FUS/ERG融合基因急性白血病3例并文献复习  

Acute leukemia with FUS/ERG fusion gene:three cases report and literature review

作　　者：熊术道[1] 胡林辉[1] 蒲莲芳 王会平[1] 张翠[1] 杨冬冬[1] 翟志敏[1] 

机构地区：[1]安徽医科大学第二附属医院血液科/血液实验室,安徽合肥230601

出　　处：《临床荟萃》2015年第10期1126-1129,共4页Clinical Focus

基　　金：国家自然科学基金(81272259)

摘　　要：目的通过分析伴FUS/ERG融合基因急性白血病(AL)临床及实验室检查特点,提高人们对伴FUS/ERG融合基因阳性AL的认识及诊治水平。方法回顾性分析我院3例伴FUS/ERG融合基因阳性AL患者临床资料,分析和讨论其发病机制、临床表现、诊断、治疗及预后。结果 3例伴FUS/ERG融合基因阳性AL患者中,1例为急性B淋巴细胞白血病(B-ALL),另2例为急性髓系白血病(AML);3例患者发病年龄轻(平均年龄13岁),外周血白细胞高;B-ALL患者完全缓解,停药3年后出现右侧睾丸T淋巴母细胞瘤;1例AML患儿确诊18天后死亡;另1例AML患者经化疗获得完全缓解,但出现新的白血病细胞克隆(CD34+CD117-CD33+CD64+CD4+CD45+++)。结论伴FUS/ERG融合基因阳性AL的发病年龄相对年轻,见于除AML-M3以外的各型AL;白血病细胞负荷大,病情危重,疗效差,易复发,预后不良;FUS/ERG融合基因检测应作为初诊AL分子诊断的常规检测项目。Objective To improve the cognition,diagnostic level and therapeutic effect by analyzing clinical and laboratory characteristics of acute leukemia（AL）with FUS/ERG fusion gene.Methods The clinical data of three AL patients with FUS/ERG gene were analyzed retrospectively and the pathogenesis,clinical manifestation,diagnosis,treatment and prognosis were analyzed and discussed.Results Among three cases,one case was acute B lymphoblastic leukemia（B-ALL）,while other two cases were acute myeloid leukemia（AML）.The AL patients with FUS/ERG fusion gene were characterized by a relatively younger age（average age,13 years old）involvement of various subtypes of French-American-British classification,and higher WBC counts of peripheral blood T lymphoblastoid cell tumor was found in the B-ALL child＇s right testis after 3years with the first complete remission（CR1）.The one case diagnosed AML died 18 days later and the other case of AML abstained CR1 by chemotherapy,while the different new leukemic cell clones with immunophenotype（CD34＋CD117-CD33＋CD64＋CD4＋CD45＋ ＋ ＋）was found in the bone marrow.Conclusion The AL patients with FUS/ERG fusion gene were characterized by a relatively younger age and low incidence,including various subtypes of FAB classification besides AML-M3.The AL with FUS/ERG fusion gene was often with high load of cancer cell,poor effect,easy relapse,and poor prognosis.Thus,the detection of FUS/ERG fusion gene should be used as routine test in newly diagnosed acute leukemia patients.

关 键 词：白血病 基因 FUS/ERG融合基因 

分 类 号：R733.7[医药卫生—肿瘤]