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  • Title: [Analysis of the therapeutic effect of avatinib bridged allogeneic hematopoietic stem cell transplantation on 7 cases of recurrent/refractory RUNX1-RUNX1T1 positive acute myeloid leukemia with KIT mutations].
    Author: Han SY, Zhou HX, Han Y, Wu DP.
    Journal: Zhonghua Xue Ye Xue Za Zhi; 2024 Aug 14; 45(8):767-771. PubMed ID: 39307724.
    Abstract:
    Objective: To evaluate the efficacy of avatinib plus allogeneic hematopoietic stem cell transplantation (allo-HSCT) for the treatment of recurrent/refractory RUNX1-RUNX1T1 positive acute myeloid leukemia (AML) with KIT mutations. Method: A retrospective study was conducted on the clinical data of seven relapsed/refractory AML patients containing the RUNX1-RUNX1T1 fusion gene and KIT mutation who received afatinib plus allo-HSCT treatment at the First Affiliated Hospital of Soochow University from June 2019 to June 2023. Results: The seven AML patients included one male and six females with a median age of 37 (18-56) years. All seven patients had KIT mutations (five positive for D816V and two positive for D816Y) . There were two refractory patients and five relapsed patients (all of whom had bone marrow recurrence) . All patients had to complete at least one course of treatment with afatinib before transplantation. Four patients achieved complete remission (CR) after treatment with afatinib, six patients had negative KIT gene mutations, and one had a decreased KIT gene mutational burden. There were three cases of unrelated identical transplantation and four cases of haploidentical transplantation. All patients received the modified Bu/Cy pretreatment regimen. After transplantation, all patients were successfully implanted and a bone marrow examination showed CR and minimal residual disease turned negative. Five patients exhibited negative fusion genes. Two patients died from infection following transplantation. Conclusion: Afatinib plus allo-HSCT may be an effective and safe new treatment strategy for RUNX1-RUNX1T1 positive AML patients with KIT-D816 mutation. 目的： 探讨阿伐替尼桥接异基因造血干细胞移植（allo-HSCT）治疗伴KIT突变复发/难治性RUNX1-RUNX1T1阳性急性髓系白血病（AML）的疗效。 方法： 对2019年6月至2023年6月期间在苏州大学附属第一医院接受阿伐替尼桥接allo-HSCT治疗的7例伴RUNX1-RUNX1T1融合基因与KIT突变的复发/难治性AML患者进行回顾性研究。 结果： 7例AML患者中男1例，女6例，中位年龄37（18~56）岁。7例患者均伴有KIT突变（D816V突变阳性5例，D816Y突变阳性2例）。难治患者2例，复发患者5例（均为骨髓复发）。所有患者移植前至少完成1个疗程阿伐替尼治疗。4例患者在阿伐替尼治疗后获得完全缓解（CR），6例患者KIT基因突变转阴，1例患者KIT基因突变负荷较前下降。全相合无关供者移植3例，单倍体移植4例。所有患者均接受改良Bu/Cy预处理方案。移植后所有患者均顺利植入，复查骨髓象均达CR且微小残留病（MRD）转阴，5例患者融合基因转阴。移植后2例患者死于感染。 结论： 阿伐替尼桥接allo-HSCT对于伴有KIT-D816突变的RUNX1-RUNX1T1阳性AML患者可能是一种有效、安全的治疗新策略。.
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