Clinical Analysis of SET-NUP214 Fusion Gene Positive Patients with Acute Leukemia / 中国实验血液学杂志

OBJECTIVE@#To analyze the characteristics and prognosis of acute leukemia(AL) with SET-NUP214 fusion gene.@*METHODS@#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.@*RESULTS@#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.@*CONCLUSION@#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.

Mixed鄄phenotypic acute leukemia with SET鄄NUP214 fusion gene positive and extramedullary infiltration: report of one case and review of literature / 白血病·淋巴瘤

Objective To investigate the clinical and molecular biological characteristics of mixed_phenotypic acute leukemia (MPAL) with SET_NUP214 fusion gene positive and extramedullary infiltration. Methods The clinical characteristics, diagnosis and treatment of one MPAL patient with SET_NUP214 and extramedullary infiltration who was admitted to Hebei Yanda Ludaopei Hospital in November 2017 were analyzed, and the literature was reviewed. Results The patient was diagnosed as MPAL with extramedullary infiltration. Gene detection found SET exon7_NUP214 exon17 fusion positive accompanied with PHF6, SRSF2 and NRAS mutations. After intensive chemotherapy, the patient achieved complete remission, and then received hematopoietic stem cell transplantation (HSCT), followed by early extramedullary relapse after transplantation, and achieved secondary remission after consolidation chemotherapy. Conclusions MPAL with SET_NUP214 fusion gene positive and extramedullary infiltration has a poor prognosis, and it is easy to relapse. Currently, HSCT is the best available treatment strategy for such patients.

Adult acute T-lymphocytic leukemia patients with SET-NUP214 fusion gene: report of four cases and review of literature / 白血病·淋巴瘤

Objective To analyze the clinical and biological characteristics of adult acute T-lymphocytic leukemia (T-ALL) patients carrying SET-NUP214 fusion gene,and the prognostic value of SET-NUP214 molecular marker monitoring.Methods The clinical and laboratory data of 4 adult T-ALL patients with SET-NUP214 fusion gene in the Third People's Hospital of Chengdu from January 2009 to December 2014 were analyzed retrospectively,and T cell receptor (TCR) gene rearrangement was detected to judge the differentiation and developmental stages of tumor cells in these patients.Minimal residual disease (MRD) was detected in 2 patients with follow-up specimens through detection of SET-NUP214 gene by using polymerase chain reaction.Results Four patients expressed T cell immune markers CD5,CD7,and cytoplasmic CD3 (cyCD3),and also expressed some myeloid-specific antigens.All 4 patients had the same SET-NUP214 fusion site.In the tumor cells of 4 patients,5 TCRB gene rearrangements were detected,all of which were incomplete rearrangement of DB-JB;4 patients were detected with TCRG and TCRD gene rearrangements,and all were completely rearranged.The result of MRD monitoring through SET-NUP214 fusion gene was consistent with clinical treatment outcome.Conclusions The T-ALL patients with SET-NUP214 fusion gene have some unique cell biological characteristics.SET-NUP214 fusion gene could be used as a molecular marker for MRD monitoring,and which can be used for the follow-up in the course of treatment.