[Clinical Significance of RAS Gene Mutations in Patients with Acute Myeloid Leukemia].

Ji-Feng Wei, Hui-Ying Qiu, Ze Chen, Lei Miao, Ying Wang, Li-Dong Zhao, Zhi-Mei Cai
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Abstract

Objective: To investigate the clinical characteristics of RAS gene mutations in patients with acute myeloid leukemia (AML).

Methods: 43 myeloid gene mutations were detected using next-generation sequencing (NGS) in 180 patients with AML who were first diagnosed between May 2011 and February 2021. The molecular and clinical features of RAS gene mutations and their effects on efficacy and survival of patients were retrospectively analyzed.

Results: Among 180 AML patients, the proportion of mutations in RAS pathway-related genes were NRAS (14.4%), KRAS (2.2%), FLT3-ITD (13.8%), PTPN11 (7.7%), KIT (5.0%), FLT3-TKD (3.8%) and CBL (2.7%). Seventy-three (40.6%) AML patients had gene mutations associated with the RAS pathway.The number of peripheral blood white blood cells and the proportion of bone marrow primitive juvenile cells in patients with NRAS/KRAS gene mutation were higher than those of patient with RAS wild-type, the difference was statistically significant (P<0.05). NRAS/KRAS gene mutations were significantly associated with the CBL gene mutation(r=0.287). In young AML patients (age <60 years), there were no significant differences in complete response rate (CR), progression-free survival (PFS), and overall survival (OS) between patients with RAS gene mutation and those with wild-type(P>0.05). In elderly AML patients (age≥60 years), PFS and OS in RAS mutants were significantly lower than those in wild-type patients(P<0.05).

Conclusion: In AML patients, RAS gene mutation is relatively common, and RAS gene mutation is associated with clinical characteristics and efficacy of patients, and may be a molecular marker of poor prognosis for elderly AML.

[急性髓系白血病患者RAS基因突变的临床意义]。
目的:探讨急性髓性白血病(AML)患者RAS基因突变的临床特点。方法:采用新一代测序(NGS)对2011年5月至2021年2月首次诊断的180例AML患者进行43例髓系基因突变检测。回顾性分析RAS基因突变的分子和临床特征及其对患者疗效和生存的影响。结果:180例AML患者中,RAS通路相关基因突变比例依次为NRAS(14.4%)、KRAS(2.2%)、FLT3-ITD(13.8%)、PTPN11(7.7%)、KIT(5.0%)、FLT3-TKD(3.8%)、CBL(2.7%)。73例(40.6%)AML患者存在与RAS通路相关的基因突变。NRAS/KRAS基因突变患者外周血白细胞数量及骨髓原始幼代细胞比例均高于RAS野生型患者,差异有统计学意义(P0.05)。在老年AML患者(年龄≥60岁)中,RAS突变体的PFS和OS明显低于野生型患者(p结论:在AML患者中,RAS基因突变较为常见,且RAS基因突变与患者的临床特征和疗效相关,可能是老年AML预后不良的分子标志物。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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