SET::NUP214融合基因阳性急性白血病患者3例并文献复习  

SET::NUP214 fusion gene-positive acute leukemia in three patients:a literature review

作　　者：石泽延[1,2] 韦琼 韦玉岚 张逸桐 粟艳云 刘振芳 赵卫华[1,2] SHI Zeyan;WEI Qiong;WEI Yulan;ZHANG Yitong;SU Yanyun;LIU Zhenfang;ZHAO Weihua(Department of Hematology,the First Affiliated Hospital of Guangxi Medical University,Nanning 530021,China;Key Laboratory of Hematology,Guangxi Medical University,Education Department of Guangxi Zhuang Autonomous Region,Nanning 530021,China)

机构地区：[1]广西医科大学第一附属医院血液内科,南宁530021 [2]广西高校血液病重点实验室,南宁530021

出　　处：《广西医科大学学报》2024年第12期1695-1700,共6页Journal of Guangxi Medical University

基　　金：广西壮族自治区卫生健康委员会自筹经费科研课题(No.Z20200961);广西卫生适宜技术开发与推广应用项目(No.S2022092)。

摘　　要：目的:提高对SET::NUP214融合基因阳性急性白血病的认识。方法:回顾性分析2018年7月至2019年11月广西医科大学第一附属医院收治的3例SET::NUP214融合基因阳性急性白血病患者的临床资料,并结合相关文献进行复习。结果:3例SET::NUP214融合基因阳性急性白血病患者中1例诊断为急性T淋巴细胞白血病(T-ALL),1例为急性髓系白血病(AML),1例为急性淋巴细胞白血病L2(ALL-L2),2例患者诊断时在我院行BCR::ABL荧光原位杂交(FISH)技术检测阳性,按照急性淋巴细胞白血病常规治疗效果欠佳;2例ALL患者均在1年内复发,1例AML患者化疗完全缓解,随后进行异基因移植,移植后10个月复发。结论:SET::NUP214融合基因阳性急性白血病少见,主要见于T-ALL中,染色体可正常,行BCR::ABLFISH有助于早期诊断,确诊需行融合基因检测。含激素化疗方案效果不佳,生存期短,预后差,异基因移植或可改善此类患者的预后。Objective:To enhance the understanding of SET::NUP214 fusion gene-positive acute leukemia.Methods:A retrospective analysis was conducted on the clinical data of three patients with SET::NUP214 fusion gene-positive acute leukemia admitted to the First Affiliated Hospital of Guangxi Medical University from July 2018 to November 2019,and a review was carried out in combination with relevant literature.Results:Among the three patients with SET::NUP214 fusion gene-positive acute leukemia,one was diagnosed with acute T-lymphoblastic leukemia(T-ALL),one with acute myeloid leukemia(AML),and one with acute lymphoblastic leukemia L2(ALL-L2).Two patients had positive BCR::ABL fluorescence in situ hybridization(FISH)test re‐sults at the time of diagnosis in the First Affiliated Hospital of Guangxi Medical University.The conventional treatment for ALL was ineffective.Both of the two ALL patients relapsed within 1 year.One AML patient achieved complete remission after chemotherapy and then underwent allogeneic transplantation,but relapsed ten months after transplantation.Conclusion:SET::NUP214 fusion gene-positive acute leukemia is rare,mainly seen in T-ALL,and the chromosomes can be normal.BCR::ABL FISH is conducive to early diagnosis,and the confir‐mation requires fusion gene detection.The hormonal chemotherapy regimen for ALL is ineffective,with a short survival period and poor prognosis.Allogeneic transplantation may improve the prognosis of such patients.

关 键 词：SET::NUP214融合基因 急性白血病 治疗 

分 类 号：R733.71[医药卫生—肿瘤]