[Clinical Analysis of SET-NUP214 Fusion Gene Positive Patients with Acute Leukemia].

To analyze the characteristics and prognosis of acute leukemia(AL) with SET-NUP214 fusion gene.The clinical data of 17 patients over 14 years old newly diagnosed with SET-NUP214 positive AL admitted in Institute of Hematology and Blood Diseases Hospital from August 2017 to May 2021 were analyzed retrospectively.Among the 17 SET-NUP214 positive patients, 13 cases were diagnosed as T-ALL (ETP 3 cases, Pro-T-ALL 6 cases, Pre-T-ALL 3 cases, Medullary-T-ALL 1 case), AML 3 cases (2 cases M5, 1 case M0) and ALAL 1 case. Thirteen patients presented extramedullary infiltration at initial diagnosis. All 17 patients received treatment, and a total of 16 cases achieved complete remission (CR), including 12 cases in patients with T-ALL. The total median OS and RFS time were 23 (3-50) months and 21 (0-48) months, respectively. Eleven patients received allogeneic hematopoietic stem cell transplantation(allo-HSCT), with median OS time of 37.5 (5-50) months and median RFS time of 29.5 (5-48) months. The median OS time of 6 patients in chemotherapy-only group was 10.5 (3-41) months, and median RFS time of 6.5 (3-39) months. The OS and RFS of patients with transplantation group were better than those of chemotherapy-only group (P=0.038). Among the 4 patients who relapsed or refractory after allo-HSCT, the SET-NUP214 fusion gene did not turn negative before transplantation. While, in the group of 7 patients who have not relapsed after allo-HSCT till now, the SET-NUP214 fusion gene expression of 5 patients turned negative before transplantation and other 2 of them were still positive.The fusion site of SET-NUP214 fusion gene is relatively fixed in AL patients, often accompanied by extramedullary infiltration. The chemotherapy effect of this disease is poor, and allo-HSCT may improve its prognosis.SET-NUP214融合基因阳性急性白血病临床分析.分析SET-NUP214融合基因阳性急性白血病的特点和预后.回顾性分析2017年8月至2021年5月中国医学科学院血液病医院收治的17例14岁以上的初诊SET-NUP214融合基因阳性急性白血病患者的临床资料.17例SET-NUP214阳性患者中ALL 13例(均为T-ALL，其中ETP 3例，Pro-T-ALL 6例，Pre-T-ALL 3例，Medullary-T-ALL 1例)、AML 3例（2例M5，1例M0）、系列不清的急性白血病(ALAL) 1例。就诊时13例患者伴髓外浸润。17例患者均接受治疗，总计完全缓解（CR）16例，其中T-ALL患者的CR例数为12例，中位OS时间为23（3-50）个月，RFS时间为21（0-48）个月。11例患者接受异基因造血干细胞移植，中位OS时间为37.5（5-50）个月，中位RFS时间为29.5（5-48）个月；单纯化疗组6例患者的中位OS时间为10.5（3-41）个月，中位RFS时间为6.5（3-39）个月。移植组患者的OS及RFS均优于单纯化疗组（P=0.038）。异基因造血干细胞移植后复发/难治的4例患者移植前SET-NUP214融合基因未转阴；异基因造血干细胞移植后至今未复发的7例患者中，5例移植前SET-NUP214基因均转为阴性，2例仍为阳性.急性白血病中SET-NUP214融合基因的融合位点较固定，易伴发髓外浸润，化疗效果差，异基因造血干细胞移植可改善这类患者的疗效.