摘要
目的: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。方法: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。结果: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)。结论: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。
Objective:To investigate the clinical characteristics of RAS gene mutations in patients with acute myeloid leukemia(AML). Methods: 43myeloid gene mutations were detected using next-generation sequencing(NGS)in180patients with AML who were first diagnosed between May2011and February2021. The molecular and clinical features of RAS gene mutations and their effects on efficacy and survival of patients were retrospectively analyzed. Results:Among180AML 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%). Seventythree(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< 60years),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≥60years),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.
作者
魏计锋
仇惠英
陈泽
苗蕾
王莹
赵利东
蔡志梅
WEI Ji-Feng;QIU Hui-Ying;CHEN Ze;MIAO Lei;WANG Ying;ZHAO Li-Dong;CAI Zhi-Mei(Department of Hematology,Lianyungang First People's Hospital,Department of Hematology,The First Affiliated Hospital of Soochow University,Jiangsu Institute of Hematology.Lianyungang 222000,Jiangsu Province,China)
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2022年第5期1391-1396,共6页
Journal of Experimental Hematology
