SET: : NUP214 fusion gene-positive acute leukemia in three patients: a literature review

Objective To enhance the understanding of SET: : NUP214 fusion gene-positive acute leukemia.

Methods A retrospective analysis was conducted on the clinical data of three patients with SET: : NUP214 fusion gene-positive acute leukemia admitted to the First Affiliated Hospital of Guangxi Medical University from July 2018 to November 2019, and a review was carried out in combination with relevant literature.

Results Among the three patients with SET: : NUP214 fusion gene-positive acute leukemia, one was diagnosed with acute Tlymphoblastic leukemia (T-ALL), one with acute myeloid leukemia (AML), and one with acute lymphoblastic leukemia L2 (ALL-L2). Two patients had positive BCR: : ABL fluorescence in situ hybridization (FISH) test results at the time of diagnosis in the First Affiliated Hospital of Guangxi Medical University. The conventional treatment for ALL was ineffective. Both of the two ALL patients relapsed within 1 year. One AML patient achieved complete remission after chemotherapy and then underwent allogeneic transplantation, but relapsed ten months after transplantation.

Conclusion SET: : NUP214 fusion gene-positive acute leukemia is rare, mainly seen in T-ALL, and the chromosomes can be normal. BCR: : ABL FISH is conducive to early diagnosis, and the confirmation requires fusion gene detection. The hormonal chemotherapy regimen for ALL is ineffective, with a short survival period and poor prognosis. Allogeneic transplantation may improve the prognosis of such patients.