Abstract：
This study aimed to examine the characteristics and treatment outcomes of patients with TP53-mutant acute myeloid leukaemia (AML) and to explore potential prognostic factors. This retrospective analysis included 130 patients diagnosed with TP53-mutant AML at the Fujian Medical University Union Hospital between January 2016 and June 2023. Patients\' ages ranged from 17 to 80 years, with a median age of 59 years. The proportions of de novo, therapy-related, and secondary AML cases were 71.5%, 7.7%, and 20.8%, respectively. Complex karyotypes were observed in 60.6% of patients, and the proportions of -5 or del(5q), -7 or del(7q), and - 17 or del(17p) were 41.7%, 27.9% and 14.4%, respectively. DNA methylation- and myelodysplasia-related (MR) gene mutations were observed in 36.9% and 25.4% of patients, respectively. These patients showed poor survival, with a median overall survival (OS) of 4.5 months, a 1-year OS rate of 32.5%, a 3-year OS rate of 18.8%, and a 5-year OS rate of 11.3%. The complete response rates for intensive chemotherapy (IC), hypomethylating agent (HMAs)-based therapies, and azacitidine plus venetoclax were 35.7%, 22.2%, and 37.5%, respectively. Patients who did or did not receive allogeneic haematopoietic stem cell transplantation (allo-HSCT) had similar prognoses (median OS: 6.0 vs. 3.9 months; P = 0.6415). Multivariate analysis indicated that MR gene mutations is an independent favorable prognostic factor of OS (HR = 0.366, 95% CI: 0.181-0.738, P = 0.005). In conclusion, patients with TP53-mutant AML have poor prognoses under current treatment strategies and MR gene mutations are associated with a more favorable survival. Therefore, further studies are needed to improve the survival rates in this population.
摘要：
本研究旨在研究TP53突变型急性髓系白血病（AML）患者的特点和治疗结果，并探讨潜在的预后因素。这项回顾性分析包括2016年1月至2023年6月在福建医科大学附属协和医院诊断为TP53突变AML的130例患者。患者年龄从17岁到80岁，平均年龄为59岁。从头的比例，治疗相关，继发性AML病例为71.5%，7.7%,和20.8%，分别。在60.6%的患者中观察到复杂核型,和-5或del(5q)的比例，-7或del(7q)，-17或del(17p)为41.7%，27.9%和14.4%，分别。在36.9%和25.4%的患者中观察到DNA甲基化和骨髓增生异常相关(MR)基因突变,分别。这些患者的生存率很低，中位总生存期（OS）为4.5个月，1年OS率为32.5%，三年OS率为18.8%，5年OS率为11.3%。强化化疗（IC）的完全缓解率，基于低甲基化剂（HMA）的疗法，阿扎胞苷加维奈托克占35.7%，22.2%,和37.5%，分别。接受或未接受异基因造血干细胞移植（allo-HSCT）的患者预后相似（中位OS：6.0vs.3.9个月；P=0.6415）。多因素分析显示,MR基因突变是OS的独立预后因素(HR=0.366,95%CI:0.181~0.738,P=0.005)。总之,TP53突变型AML患者在目前的治疗策略下预后较差,MR基因突变与更有利的生存率相关.因此,需要进一步的研究来提高该人群的生存率。
