关键词: 急性髓系白血病, BCR-ABL1, FLT3-ITD, 基因突变

Abstract:

Objective To investigate the diagnosis and treatment of acute myeloid leukemia（AML） with BCR-ABL1 accompanied by FLT3-ITD and multiple gene mutations,and to provide a reference for studying the clinical characteristics and prognosis of this rare AML subtype. Methods A case of de novo AML with BCR-ABL1 accompanied by FLT3-ITD and other multiple gene mutations was analyzed retrospectively,and the results of clinical laboratory indicators were summarized. Results Bone marrow morphology suggested acute leukemia. The immuno-phenotypes of the blast cells were CD13⁺,CD33⁺,CD34⁺（partial）,CD117⁺ and HLA-DR⁺. Karyotype analysis showed the existence of BCR-ABL1 fusion gene product formed by t（9;22）. There were FLT3-ITD mutations and missense mutations in DNMT3A,BCOR,IDH2,BCORL1 and RUNX1 genes by gene mutation screening. Combined with the historical clinical laboratory test results,this case was diagnosed as AML with BCR-ABL1. The patient received imatinib,decitabine,homoharringtonine and cytarabine hydrochloride chemotherapy and anti-infection treatment. The overall vital signs were stable,and the patient was discharged for follow-up. Conclusions Limited cases of AML with BCR-ABL1 have been reported,and there are no standardized options for the diagnosis and treatment. The MICM classifications,especially cytogenetics and molecular biology screening,have been crucial for the diagnosis and prognostic monitoring of AML with BCR-ABL1.

Key words: Acute myeloid leukemia, BCR-ABL1, FLT3-ITD, Gene mutation