文章：

在接受强化化疗的NPM1和/或FLT3-ITD突变急性髓系白血病患者中，额外分子与细胞遗传学异常对预后的影响：来自希腊登记处的真实世界数据

The Prognostic Impact of Additional Molecular and Cytogenetic Abnormalities on AML Patients with NPM1- and/or FLT3-ITD Mutations Receiving Intensive Chemotherapy: Real-World Data from the Greek Registry

原文发布日期：16 February 2025

DOI: 10.3390/cancers17040667

类型: Article

开放获取: 是

英文摘要：

Background/Objective:The prognostic impact of additional cytogenetic aberrations and molecular abnormalities (such as MDS-related mutations, mutations in myeloid genes and theKRAS/NRASmutations) in patients withNPM1- and/orFLT3-ITD-mutated AML remains elusive.Methods:This retrospective, multicentre study of real-world data aimed to investigate the impact of these mutations and cytogenetic abnormalities on the prognosis of patients withNPM1- and/orFLT3-ITD-mutated AML, treated with intensive chemotherapy.Results:In a cohort of 161 patients, the only parameters identified to affect the outcomes (EFS and OS) were the age of the patient, primary refractory disease, the presence of aNPM1mutation and the use of allogenic stem cell transplantation (allo-SCT) within the first complete remission. More specifically, ages below the median conferred significantly improved outcomes, whereas primary refractory disease exhibited a negative correlation with the EFS and OS. Subsequent subgroup analysis, stratifying patients into three groups (Group 1:NPM1mutated/FLT3wt; Group 2:NPM1mutated/FLT3mutated; Group 3:NPM1wt/FLT3mutated). revealed that allo-SCT in CR1 improved the outcomes (EFS and OS) in Groups 2 and 3, but had no additional impact in Group 1.Conclusions:Age, primary refractory disease and allogenic stem cell transplantation in the first complete response were found to have a prognostic impact on outcomes, Interestingly, no significant association was detected between the poor prognostic cytogenetic abnormalities or the presence of additional mutations in myeloid genes, MDS-related genes or KRAS/NRAS genes and the outcomes in any group of patients.

摘要翻译： 

背景/目的：在NPM1和/或FLT3-ITD突变的急性髓系白血病（AML）患者中，额外细胞遗传学异常和分子学异常（如MDS相关突变、髓系基因突变以及KRAS/NRAS突变）对预后的影响尚不明确。方法：这项基于真实世界数据的回顾性多中心研究旨在探讨这些突变和细胞遗传学异常对接受强化化疗的NPM1和/或FLT3-ITD突变AML患者预后的影响。结果：在161例患者队列中，唯一被确定影响结局（无事件生存期和总生存期）的参数是患者年龄、原发难治性疾病、NPM1突变的存在以及在首次完全缓解期内进行异基因造血干细胞移植。具体而言，年龄低于中位数的患者预后显著改善，而原发难治性疾病与无事件生存期和总生存期呈负相关。随后的亚组分析将患者分为三组（第1组：NPM1突变/FLT3野生型；第2组：NPM1突变/FLT3突变；第3组：NPM1野生型/FLT3突变），结果显示在首次完全缓解期进行异基因造血干细胞移植改善了第2组和第3组患者的结局（无事件生存期和总生存期），但对第1组患者无额外影响。结论：年龄、原发难治性疾病以及在首次完全缓解期进行异基因造血干细胞移植被发现对预后有影响。有趣的是，在任何患者组中均未发现不良预后细胞遗传学异常或髓系基因、MDS相关基因或KRAS/NRAS基因额外突变的存在与结局之间存在显著关联。

原文链接：

The Prognostic Impact of Additional Molecular and Cytogenetic Abnormalities on AML Patients with NPM1- and/or FLT3-ITD Mutations Receiving Intensive Chemotherapy: Real-World Data from the Greek Registry