Chen S M, Song W J, Qin Y Z, Wang Z, Dang H, Shi Y, He Q, Jiang Q, Jiang H, Huang X J, Lai Y Y
Peking University People's Hospital, Peking University Institute of Hematology, National Clinical Research Center for Hematologic Disease, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation for Hematological Diseases, Beijing 100044, China.
Zhonghua Xue Ye Xue Za Zhi. 2021 Jun 14;42(6):459-465. doi: 10.3760/cma.j.issn.0253-2727.2021.06.004.
To investigate the expression of SET-NUP214 fusion gene in hematological malignancies and to analyze its related clinical biological characteristics. The clinical data of 24 patients with SET-NUP214 fusion gene-positive hematological malignancies were retrospectively analyzed, and the Kaplan-Meier method was used for survival analysis. Among the 24 patients with SET-NUP214 fusion gene, 15 cases of acute lymphoblastic leukemia (ALL) (13 cases of T-ALL and 2 cases of B-ALL) , 7 cases of acute myeloid leukemia (AML) , and 2 cases of T/myeloid mixed acute leukemia have been identified. The immunophenotype of 13 cases of T-ALL was mainly characterized by CD3(+)CD2(-), 73.3% of ALL was characterized by myeloid marker expression, and 85.7% of AML was characterized by CD7 expression. Complete remission (CR) was achieved in 22 patients (91.7%) after induction chemotherapy. All 24 patients received allogeneic hematopoietic stem cell transplantation (HSCT) . With a median follow-up of 24 months, the 3-year relapse free survival (RFS) of AML and ALL was 85.7% and 33.3%, respectively (=0.128) . Comparing 13 cases of SET-NUP214-positive and 62 cases of SET-NUP214-negative T-ALL, the CR rates of induction chemotherapy were 92.3% and 93.5% (=0.445) , and the 4-week CR rates of induction chemotherapy were 69.2% and 72.6%, respectively (=0.187) ; the differences were not statistically significant. After HSCT, the 3-year RFS of SET-NUP214(+)T-ALL and SET-NUP214(-)T-ALL was 38.5% and 66.4%, respectively (=0.028) , and the difference was statistically significant. The SET-NUP214 fusion gene is mainly detected in T cell-derived hematological malignancies, and the prognosis of SET-NUP214 positive T-ALL is relatively poor.
探讨SET-NUP214融合基因在血液系统恶性肿瘤中的表达情况，并分析其相关临床生物学特征。回顾性分析24例SET-NUP214融合基因阳性血液系统恶性肿瘤患者的临床资料，采用Kaplan-Meier法进行生存分析。在24例SET-NUP214融合基因阳性患者中，确诊为15例急性淋巴细胞白血病（ALL）（13例T-ALL和2例B-ALL）、7例急性髓系白血病（AML）以及2例T/髓系混合急性白血病。13例T-ALL的免疫表型主要特征为CD3(+)CD2(-)，73.3%的ALL以髓系标志物表达为特征，85.7%的AML以CD7表达为特征。诱导化疗后22例患者（91.7%）达到完全缓解（CR）。24例患者均接受了异基因造血干细胞移植（HSCT）。中位随访24个月，AML和ALL的3年无复发生存率（RFS）分别为85.7%和33.3%（=0.128）。比较13例SET-NUP214阳性和62例SET-NUP214阴性T-ALL，诱导化疗的CR率分别为92.3%和93.5%（=0.445），诱导化疗4周时的CR率分别为69.2%和72.6%（=0.187）；差异均无统计学意义。HSCT后，SET-NUP214(+)T-ALL和SET-NUP214(-)T-ALL的3年RFS分别为38.5%和66.4%（=0.028），差异有统计学意义。SET-NUP214融合基因主要在T细胞来源的血液系统恶性肿瘤中检测到，SET-NUP214阳性T-ALL预后相对较差。
