SET-NUP214融合基因阳性血液恶性肿瘤24例临床特性分析

Analysis of the clinical characteristics of 24 cases of hematological malignancies with SET-NUP214 fusion gene

目的探讨SET-NUP214融合基因在血液恶性肿瘤中的表达,分析其相关的临床及生物学特征。方法回顾性分析2012年1月至2018年12月北京大学人民医院诊断的24例SET-NUP214融合基因阳性血液恶性肿瘤患者的临床资料,并采用Kaplan-Meier法进行生存分析。结果24例患者中,急性淋巴细胞白血病(ALL)15例(T-ALL 13例,B-ALL 2例)、急性髓系白血病(AML)7例,T/髓混合急性白血病2例。13例T-ALL患者免疫表型以CD3+CD2-为主要特征,73.3%的ALL患者伴有髓系标志表达,85.7%的AML患者表达CD7。24例患者诱导化疗完全缓解(CR)率91.7%。全部患者均接受异基因造血干细胞移植,中位随访24个月,AML和ALL的3年无复发生存(RFS)率分别为85.7%和33.3%,差异无统计学意义(P=0.128)。比较13例SET-NUP214阳性与62例SET-NUP214阴性T-ALL患者的疗效,诱导化疗CR率分别为92.3%和93.5%(P=0.445),诱导化疗4周CR率分别为69.2%和72.6%(P=0.187),差异均无统计学意义。接受造血干细胞移植后,SET-NUP214阳性T-ALL患者的3年RFS率(38.5%)明显低于SET-NUP214阴性T-ALL患者(66.4%)(P=0.028)。结论SET-NUP214融合基因主要见于T细胞源性血液肿瘤,伴SET-NUP214融合基因T-ALL预后较差。

Objective To investigate the expression of SET-NUP214 fusion gene in hematological malignancies and to analyze its related clinical biological characteristics.Methods 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.Results 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(P=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%(P=0.445),and the 4-week CR rates of induction chemotherapy were 69.2%and 72.6%,respectively(P=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(P=0.028),and the difference was statistically significant.Conclusion 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.