FLT3-ITD等多种基因突变原发性急性髓系白血病伴BCR-ABL1患者实验室检测结果分析

Diagnosis and clinical characteristics of acute myeloid leukemia with BCR-ABL1 accompanied by FLT3-ITD and multiple gene mutations

目的通过分析FLT3-ITD等多种基因突变的急性髓系白血病(AML)伴BCR-ABL1患者的实验室检测结果,为进一步了解此类罕见AML亚型提供参考。方法分析1例FLT3-ITD等多种基因错义突变的原发AML伴BCR-ABL1患者实验室检测结果。结果患者骨髓细胞形态学检查示急性白血病;骨髓原始细胞免疫表型为CD13^(+)、CD33^(+)、CD34^(+)(部分)、CD117^(+)和HLA-DR^(+);染色体核型分析示存在t(9;22)形成的BCRABL1融合基因;基因筛查示FLT3-ITD阳性,且DNMT3A、BCOR、IDH2、BCORL1和RUNX1基因均检测到错义突变。结合既往实验室检测结果,符合AML伴BCR-ABL1亚型诊断。患者接受伊马替尼、地西他滨、高三尖杉酯碱、盐酸阿糖胞苷化疗方案和抗感染治疗,总体生命体征平稳,出院随访。结论AML伴BCR-ABL1病例较罕见,尚未形成标准化的诊断和治疗方案。MICM分型,尤其是细胞遗传学和分子生物学相关检测对其诊断和预后评估有重要意义。

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.