【摘要】 目的:描述家族性急性髓系白血病(familial acute myeloid leukemia, FAML)患者的形态学及遗传学特征，分析患者异基因造血干细胞移植(allogeneic hematopoietic stem cell transplantation, allo-HSCT)后疗效及转归情况。方法:纳入2个亲子代具有不同遗传学特征的FAML家系。收集2个FAML患者初诊时的基本信息、实验室检查、染色体及基因检测结果。探究影响FAML患者预后的因素。结果:家系A共有3例患者确诊为急性髓系白血病(AML),1例早期死亡，1例化疗期间出现2次复发，并最终在初诊后第6年死亡，先证者接受了HSCT,目前移植后77个月，仍健康存活。家系B中有2例患者诊断为AML,先证者在化疗缓解后行HSCT,现为移植后73个月，患者健康存活，先证者母亲经规律化疗后完全缓解，计划移植时出现形态学复发，目前复发后第2个疗程化疗后。结论:FAML临床罕见，诊断需要结合家族史，遗传学等进行综合判断，接受allo-HSCT后获得良好的治疗效果，有望长期生存。更多还原

【Abstract】 Objective: To describe the morphological and genetic characteristics of patients with familial acute myeloid leukemia(FAML) and to analyze the efficacy and outcomes following allogeneic hematopoietic stem cell transplantation(allo-HSCT). Methods: Two families with FAML, exhibiting distinct genetic features across generations, were included in the study. Basic information, laboratory tests, chromosome, and gene test results at the initial diagnosis of two patients with FAML were collected. Factors influencing the prognosis of patients with FAML were explored. Results: In Family A, three patients were diagnosed with AML; one died early, another experienced two relapses during chemotherapy and eventually died in the sixth year after initial diagnosis. The proband underwent allo-HSCT and is still healthy and alive 77 months post-transplantation. In Family B, two patients were diagnosed with AML; the proband underwent allo-HSCT after achieving remission with chemotherapy and is now healthy and alive 73 months post-transplantation. The proband’s mother achieved complete remission with regular chemotherapy but had a morphological relapse during the planned transplantation. Currently, after the second course of chemotherapy following relapse. Conclusion: FAML is rare in clinical practice, and diagnosis requires comprehensive judgment based on family history and genetics. After receiving allo-HSCT, good treatment effects can be achieved, and long-term survival is expected.更多还原