分析具有SET-NUP214融合基因的急性白血病（AL）的特征和预后。回顾分析2017年8月至2021年5月期间入院的17名新诊断SET-NUP214阳性AL的14岁以上患者的临床资料。在17位SET-NUP214阳性患者中，13例被诊断为T-ALL（ETP3例，Pro-T-ALL6例，Pre-T-ALL 3例，髓样T-ALL1例），AML 3例（M5 2例，M0 1例）和ALAL 1例。13名患者在初诊时表现为骨髓外浸润。所有17名患者都接受了治疗，共有16例病例达到完全缓解（CR），其中包括12例T-ALL患者。总体的中位生存时间和无复发生存时间分别为23（3-50）个月和21（0-48）个月。11名患者接受了异基因造血干细胞移植(allo-HSCT)，中位生存时间为37.5（5-50）个月，中位无复发生存时间为29.5（5-48）个月。仅接受化疗组的6名患者的中位生存时间为10.5（3-41）个月，中位无复发生存时间为6.5（3-39）个月。接受移植组的患者的生存时间和无复发生存时间均优于仅接受化疗组的患者(P = 0.038)。在11名接受allo-HSCT的患者中，4名复发或难治的患者在移植前SET-NUP214融合基因没有转阴。而在7名迄今未复发的接受allo-HSCT的患者中，有5名患者在移植前SET-NUP214融合基因表达转阴，另外两例仍为阳性。SET-NUP214融合基因的融合位点在AL患者中相对固定，常常伴随着骨髓外浸润。该疾病的化疗效果较差，而allo-HSCT可以改善其预后。

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.