伴SET-NUP214融合基因的成年人急性T淋巴细胞白血病四例并文献复习  

Adult acute T-lymphocytic leukemia patients with SET-NUP214 fusion gene:report of four cases and review of literature

作　　者：周箭[1] 林凡莉 刘恒伟[1] 郑琳[1] 黄纯兰 Zhou Jian;Lin Fanli;Liu Hengwei;Zheng Lin;Huang Chunlan(Department of Hematology,the Third People's Hospital of Chengdu,Chengdu 610031,China;Department of Hematology,Affiliated Hospital of Southwest Medical University,Luzhou 646000,China)

机构地区：[1]成都市第三人民医院血液科,610031 [2]西南医科大学附属医院血液科,泸州646000

出　　处：《白血病．淋巴瘤》2019年第3期155-159,共5页Journal of Leukemia & Lymphoma

基　　金：国家自然科学基金(81450030).

摘　　要：目的探讨携带SET-NUP214融合基因的急性T淋巴细胞白血病(T-ALL)成年患者的临床生物学特性及SET-NUP214分子标志物监测在预后判断中的价值。方法回顾性分析成都市第三人民医院2009年1月至2014年12月收治的4例伴有SET-NUP214融合基因的成年T-ALL患者的临床和实验室资料,并检测T细胞受体(TCR)基因重排情况,判断患者肿瘤细胞的分化发育阶段。对其中2例有随访标本的患者利用聚合酶链反应检测SET-NUP214基因水平对微小残留病(MRD)进行监测。结果4例患者均表达T细胞免疫标志CD5、CD7、胞质CD3(cyCD3),同时表达一些髓系特异性抗原。4例患者SET-NUP214均具有相同的融合位点。在4例患者肿瘤细胞中,共检出5个TCRB基因重排,均为DB-JB不完全重排;均检测到TCRG和TCRD基因重排,且均为完全重排。以SET-NUP214融合基因进行的MRD监测结果与临床治疗效果一致。结论携带SET-NUP214融合基因的T-ALL具有独特的细胞生物学特性。以SET-NUP214融合基因为分子标志物进行MRD监测可用于患者的随访。To analyze the clinical and biological characteristics of adult acute T-lymphocytic leukemia (T-ALL) patients carrying SET-NUP214 fusion gene,and the prognostic value of SET-NUP214 molecular marker monitoring.Methods The clinical and laboratory data of 4 adult T-ALL patients with SET-NUP214 fusion gene in the Third People's Hospital of Chengdu from January 2009 to December 2014 were analyzed retrospectively,and T cell receptor (TCR) gene rearrangement was detected to judge the differentiation and developmental stages of tumor cells in these patients.Minimal residual disease (MRD) was detected in 2 patients with follow-up specimens through detection of SET-NUP214 gene by using polymerase chain reaction.Results Four patients expressed T cell immune markers CD5,CD7,and cytoplasmic CD3 (cyCD3),and also expressed some myeloid-specific antigens.All 4 patients had the same SET-NUP214 fusion site.In the tumor cells of 4 patients,5 TCRB gene rearrangements were detected,all of which were incomplete rearrangement of DB-JB;4 patients were detected with TCRG and TCRD gene rearrangements,and all were completely rearranged.The result of MRD monitoring through SET-NUP214 fusion gene was consistent with clinical treatment outcome.Conclusions The T-ALL patients with SET-NUP214 fusion gene have some unique cell biological characteristics.SET-NUP214 fusion gene could be used as a molecular marker for MRD monitoring,and which can be used for the follow-up in the course of treatment.

关 键 词：白血病 淋巴样 SET-NUP214融合基因 聚合酶链反应 微小残留病 

分 类 号：R733.71[医药卫生—肿瘤]