SET-NUP214融合基因阳性血液恶性肿瘤24例临床特性分析

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.