Journal of Leukemia & Lymphoma 2019;28(4):219-222

doi:10.3760/cma.j.issn.1009_9921.2019.04.006

Mixed鄄phenotypic acute leukemia with SET鄄NUP214 fusion gene positive and extramedullary infiltration: report of one case and review of literature

Xiaoli MA 1 ; Xian ZHANG ; Fang WANG ; Yunchao SU ; Xue CHEN ; Yang ZHANG ; Yu ZHANG ; Mingyu WANG ; Wei ZHANG ; Jing ZHANG ; Daijing NIE ; Jiaqi CHEN ; Mingyue LIU ; Ming LIU ; Hongxing LIU

Affiliations

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Keywords

Acute leukemia; Mixed_phenotype; Extramedullary infiltration; del (9) (q34); SET_NUP214

Country

China

Language

Chinese

Abstract

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.