Getz Ted M, Bakirhan Kamila, Seropian Stuart, Shallis Rory M
Department of Internal Medicine, Section of Hematology, Yale University, New Haven, CT, USA.
Department of Hematology and Oncology, Danbury Hospital, Nuvance Health, Danbury, CT, USA.
Ann Hematol. 2025 Jul;104(7):3889-3892. doi: 10.1007/s00277-025-06388-w. Epub 2025 Jun 27.
Acute myeloid leukemia (AML) with t(8;21) is a subset of core binding factor AML and is considered to be favorable risk disease in patients receiving intensive cytarabine based chemotherapy. However, relapse remains a significant clinical challenge. Mutations in KIT, which frequently co-occur in t(8;21) AML, have been associated with worse relapse free and overall survival. Avapritinib is a novel tyrosine kinase inhibitor targeting KIT mutations that is approved for systemic mastocytosis but doesn't currently have an established role in the treatment of AML. We present a case of a patient with extensively treated KIT D816H-mutated t(8;21) AML who experienced relapse after an allogeneic hematopoietic stem cell transplant and achieved a deep remission rapidly with avapritinib monotherapy. This case highlights the potential role of avapritinib as a targeted therapy for relapsed t(8;21) AML with KIT mutations, warranting further clinical investigation.
伴有t(8;21)的急性髓系白血病(AML)是核心结合因子AML的一个亚型,在接受以阿糖胞苷为基础的强化化疗的患者中被认为是低风险疾病。然而,复发仍然是一个重大的临床挑战。KIT突变在t(8;21) AML中经常同时出现,与无复发生存期和总生存期较差有关。阿伐替尼是一种针对KIT突变的新型酪氨酸激酶抑制剂,已被批准用于系统性肥大细胞增多症,但目前在AML治疗中尚未确立其作用。我们报告一例经过广泛治疗的KIT D816H突变型t(8;21) AML患者,该患者在异基因造血干细胞移植后复发,接受阿伐替尼单药治疗后迅速实现深度缓解。该病例突出了阿伐替尼作为具有KIT突变的复发t(8;21) AML靶向治疗的潜在作用,值得进一步临床研究。