Objective: TP53-abnormal MDS/acute myeloid leukemia (AML) patients' allogeneic hematopoietic stem cell transplantation (allo-HSCT) treatment's effectiveness and influencing factors should be studied. Methods: 42 patients with TP53 gene status change MDS/AML who underwent allo-HSCT from 2014.8.1 to 2021.7.31 at the Hematology Hospital of the Chinese Academy of Medical Sciences were the subject of a retrospective analysis. The 42 patients were divided into three groups: the TP53 deletion group (group A) , TP53 mono-alle mutation group (group B) , and TP53 multi-hit group (group C) . The differences in clinical features and prognostic factors after transplantation were analyzed. Results: There were 42 MDS/AML patients, including 21 patients with MDS, and 21 patients with AML. The median follow-up period was 34.0 (7.5-75.0) months and the median patient age at the time of transplantation was 41.5 (18-63) years old. The total OS was 66.3% (95% CI 53.4%-82.4%) in 3 years after transplantation, and EFS was 61.0% (95% CI 47.7%-78.0%) in 3 years. For 3 years after receiving hematopoietic stem cell transplantation, there were no statistically significant differences in 3-year OS and EFS in groups A, B, and C (P≥0.05) . The 3 years OS was 82.5% (95% CI 63.1%-100.0%) in group A, 60.6% (95% CI 43.5%-84.4%) in group B, and 57.1% (95% CI 30.1%-100.0%) in group C. Univariate analysis revealed that the number of co-mutant genes, pre-HSCT treatment, and disease type did not affect prognosis, while age, karyotype, co-mutation, positive blast cell before transplantation, and positive blast cell after transplantation were common prognostic factors for OS and EFS (P<0.1) . MRD levels before transplantation were found to be independent risk factors for OS (P=0.037, HR=33.40, 95% CI 1.24-901.17) in a multivariate analysis. Conclusion: Patients with MDS/AML who have TP53 mutations can benefit from allo-HSCT, but patients with complex karyotypes have a worse prognosis. Meanwhile, the final flow cytometry (FCM) monitoring blast cell test before HSCT has a certain guiding significance for prognostic assessment.
目的： 探讨异基因造血干细胞移植（allo-HSCT）治疗伴TP53基因异常骨髓增生异常综合征（MDS）/急性髓系白血病（AML）患者的疗效及影响因素。 方法： 纳入2014年8月1日至2021年7月31日期间于中国医学科学院血液病医院接受allo-HSCT的42例伴TP53基因异常的MDS/AML患者，根据TP53异常情况分为TP53缺失组、TP53单基因突变组和TP53多打击组，回顾性分析各组患者的临床特征、移植疗效及其预后影响因素。 结果： 全部42例患者中包括MDS、AML患者各21例，中位移植年龄为41.5（18~63）岁，中位随访时间为34.0（7.5~75.0）个月。移植后3年总生存（OS）率为66.3%（95%CI 53.4%~82.4%），3年无事件生存（EFS）率为61.0%（95%CI 47.7%~78.0%）。TP53缺失组、TP53单基因突变组、TP53多打击组移植后3年OS率分别为82.5%（95%CI 63.1%~100.0%）、60.6%（95%CI 43.5%~84.4%）、57.1%（95%CI 30.1%~100.0%）（χ(2)=3.100，P=0.200），EFS率分别为80.8%（95%CI 60.0%~100.0%）、55.0%（95%CI 37.8%~80.3%）、50.0%（95%CI 25.0%~100.0%）（χ(2)=0.900，P=0.600）。单因素分析发现，年龄、复杂核型、共突变、移植前原始细胞阳性、移植后原始细胞阳性为OS、EFS的共同预后不良因素。多因素分析显示移植前原始细胞阳性是OS的独立危险因素（P=0.037，HR=33.40，95%CI 1.24~901.17）。 结论： allo-HSCT可改善伴TP53基因异常MDS/AML患者的不良预后，但伴有复杂核型的TP53异常患者预后较差。移植前末次流式细胞术检测骨髓原始细胞对预后评估具有一定的指导意义。.
Keywords: Acute myeloid leukemia; Allogeneic hematopoietic stem cell transplantation; Myelodysplastic syndromes; TP53 gene change.