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

• DOI: 10.19746/j.cnki.issn.1009-2137.2022.05.014
• Publication Date: 2022-10-01
• Authors: Ji-Feng Wei; Huiying Qiu; Ze Chen; Lei Miao; Ying Wang; Lidong Zhao; Zhimei Cai
• Keywords: PTPN11

To investigate the clinical characteristics of RAS gene mutations in patients with acute myeloid leukemia (AML).43 were detected using next-generation sequencing (NGS) 180 AML who first diagnosed between May 2011 and February 2021. The molecular features their effects on efficacy survival retrospectively analyzed.Among patients, proportion pathway-related genes NRAS (14.4%), KRAS (2.2%), FLT3-ITD (13.8%), PTPN11 (7.7%), KIT (5.0%), FLT3-TKD (3.8%) CBL (2.7%). Seventy-three (40.6%) had associated pathway.The number peripheral blood white cells bone marrow primitive juvenile NRAS/KRAS mutation higher than those patient wild-type, difference was statistically significant (P<0.05). significantly mutation(r=0.287). In young (age <60 years), there no differences complete response rate (CR), progression-free (PFS), overall (OS) wild-type(P>0.05). elderly (age≥60 PFS OS mutants lower wild-type patients(P<0.05).In is relatively common, may be a marker poor prognosis for AML.RAS基因突变在急性髓系白血病患者中的临床意义.探讨急性髓系白血病(AML)患者RAS基因突变的临床特征及其对预后的影响.通过二代测序技术（NGS）检测2011年5月至2021年2月本院180例初诊AML患者的43种髓系基因突变，回顾性分析RAS基因突变的分子学及临床特征，并分析其对患者疗效及生存的影响.180例AML患者中，RAS通路相关基因的突变比例依次为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患者伴有RAS通路相关基因突变。NRAS/KRAS基因突变型患者的外周血白细胞数及骨髓原始幼稚细胞比例高于RAS基因野生型的患者，差异有统计学意义（P<0.05）。NRAS/KRAS基因突变与CBL基因突变有显著相关性(r=0.287)。在年轻AML（年龄<60岁）患者中，RAS基因突变型患者与野生型患者在完全缓解率（CR）、无进展生存时间（PFS）及总生存时间（OS）上无明显统计学差异（P>0.05）。在老年AML（年龄≥60岁）患者中，RAS基因突变型患者的PFS及OS均明显低于RAS野生型患者（P<0.05）.在AML患者中，RAS基因突变较为常见，RAS基因突变与患者的临床特点、疗效有一定相关性，对老年AML可能是一种预后不良的分子学标志.