Objective: To explore the efficacy of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in acute myeloid leukemia (AML) patients with BCR::ABL1 fusion. Methods: The clinical data of seven AML patients with BCR::ABL1 fusion from November 2012 to January 2022 were retrospectively analyzed, and their survival status was followed up. Results: The median age of patients at the time of diagnosis was 35 years. Four cases (57.1%) were diagnosed with high leukocyte counts. All cases were assayed as BCR::ABL1 positive and accompanied by four types of gene mutations (NPM1, RUNX1, ASXL1, PHF6) . Seven patients received tyrosine kinase inhibitor (TKI) combined with induction chemotherapy and bridged to allo-HSCT, and six patients received maintenance therapy with TKI. Before allo-HSCT, six patients achieved complete remission, and four patients achieved complete molecular remission (CMR) . After allo-HSCT, the three remaining cases also achieved CMR. All patients were in remission post-allo-HSCT. One case died of infection, and the remaining cases survived without relapse. The 3-year cumulative overall survival rate was (80.0±17.9) %. Conclusions: TKI combined with traditional chemotherapy could achieve a high response rate in AML patients with BCR::ABL1 fusion. In addition, allo-HSCT could enhance the molecular response rate. Maintenance therapy post-HSCT with TKI could improve prognosis.
目的: 探讨异基因造血干细胞移植(allo-HSCT)治疗急性髓系白血病伴BCR::ABL1(AML伴BCR::ABL1)患者的疗效。 方法: 纳入2012年11月至2022年1月在中国医学科学院血液病医院诊断为AML伴BCR::ABL1并接受allo-HSCT的7例患者,回顾性分析其临床资料。 结果: 7例患者起病时中位年龄35(21~40)岁,4例(57.1%)白细胞增高。7例患者BCR::ABL1融合基因均为阳性且伴有NPM1、RUNX1、ASXL1、PHF6基因突变。7例患者均接受诱导化疗联合酪氨酸酶抑制剂(TKI)靶向治疗并桥接allo-HSCT,移植后6例患者继续行TKI维持治疗。移植前6例获形态学完全缓解(CR),4例获完全分子生物学缓解(CMR),allo-HSCT后其余3例也获得CMR。1例患者移植后因感染死亡,6例无复发存活,移植后3年总生存率为(80.0±17.9)%。 结论: 诱导化疗联合TKI治疗AML伴BCR::ABL1疗效较好,桥接allo-HSCT可进一步提高CMR,移植后TKI维持治疗可能有助于改善预后。.
Keywords: Acute myeloid leukemia; Allogeneic hematopoietic stem cell transplantation; Fusion gene, BCR::ABL1.