与SET-NUP214重排相关的B细胞急性淋巴细胞白血病：一例报告并文献复习
B-cell acute lymphoblastic leukemia associated with SET-NUP214 rearrangement: A case report and review of the literature.
作者信息
Zhu Hong-Hu, Zhao Xiao-Su, Qin Ya-Zhen, Lai Yue-Yun, Jiang Hao
机构信息
Department of Hematology, Peking University People's Hospital, Peking University Institute of Hematology, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, Beijing 100044, P.R. China.
出版信息
Oncol Lett. 2016 Apr;11(4):2644-2650. doi: 10.3892/ol.2016.4260. Epub 2016 Feb 23.
Abstract
The SET nuclear proto-oncogene (SET)-nucleoporin (NUP)214 fusion gene, which results from cryptic t(9;9)(q34;q34) or del(9)(q34.11q34.13), is a rare genetic event in hematological malignancies. The majority of patients carrying SET-NUP214 experience T-cell acute lymphoblastic leukemia (T-ALL), but rarely experience acute undifferentiated leukemia or acute myeloid leukemia. The current study presents the case of a 19-year-old male patient with B-cell ALL (B-ALL) carrying the SET-NUP214 fusion gene, in addition to an fms-related tyrosine kinase 3-internal tandem duplication mutation and a complex karyotype abnormality. The patient exhibited chemotherapy resistance. To the best of our knowledge, the present study is the first report of a case of B-ALL carrying the SET-NUP214 fusion gene, and provides a review of the literature.
摘要
SET核原癌基因（SET）-核孔蛋白（NUP）214融合基因由隐匿性t（9；9）（q34；q34）或del（9）（q34.11q34.13）产生，是血液系统恶性肿瘤中一种罕见的基因事件。大多数携带SET-NUP214的患者罹患T细胞急性淋巴细胞白血病（T-ALL），但很少罹患急性未分化白血病或急性髓系白血病。本研究报告了一例19岁男性B细胞急性淋巴细胞白血病（B-ALL）患者，其携带SET-NUP214融合基因，同时伴有fms相关酪氨酸激酶3内部串联重复突变和复杂的核型异常。该患者表现出化疗耐药性。据我们所知，本研究是首例关于携带SET-NUP214融合基因的B-ALL病例报告，并提供了文献综述。
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Ann Hematol. 2012 Feb;91(2):193-201. doi: 10.1007/s00277-011-1289-x. Epub 2011 Jul 1.
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Molecular characterization of alternative SET-NUP214 fusion transcripts in a case of acute undifferentiated leukemia.一例急性未分化白血病中SET-NUP214可变融合转录本的分子特征分析
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