Genomic mutations impact non-small cell lung cancer (NSCLC) biology. The influence of sex and age on the distribution of these alterations is unclear. We analyzed circulating-tumor DNA from individuals with advanced NSCLC from March 2018 to October 2020.EGFR,KRAS,ALK,ROS1,BRAF,NTRK,ERBB2,RET,MET,PIK3CA,STK11, andTP53alterations were assessed. We evaluated the differences by sex and age (<70 and ≥70) using Fisher’s exact test. Of the 34,277 samples, 30,790 (89.83%) had a detectable mutation and 19,923 (58.12%) had an alteration of interest. The median age of the ctDNA positive population was 69 (18–102), 16,756 (54.42%) were female, and 28,835 (93.65%) had adenocarcinoma. Females had more alterations in all the assessedEGFRmutations,KRASG12C, andERBB2ex20 ins. Males had higher numbers ofMETamp and alterations inSTK11andTP53. Patients <70 years were more likely to have alterations inEGFRexon 19 del/exon 20 ins/T790M,KRASG12C/D,ALK,ROS1,BRAFV600E,ERBB2Ex20ins,METamp,STK11,andTP53. Individuals ≥70 years were more likely to have alterations inEGFRL861Q,METexon 14 skipping, andPIK3CA. We provided evidence of sex- and age-associated differences in the distribution of genomic alterations in individuals with advanced NSCLC.
基因组突变影响非小细胞肺癌（NSCLC）的生物学特性。性别与年龄对这些突变分布的影响尚不明确。本研究分析了2018年3月至2020年10月期间晚期NSCLC患者的循环肿瘤DNA，检测了EGFR、KRAS、ALK、ROS1、BRAF、NTRK、ERBB2、RET、MET、PIK3CA、STK11和TP53基因变异。通过Fisher精确检验评估了性别与年龄（<70岁和≥70岁）的差异。在34,277例样本中，30,790例（89.83%）检测到突变，19,923例（58.12%）存在目标变异。ctDNA阳性患者中位年龄为69岁（范围18-102岁），女性16,756例（54.42%），腺癌28,835例（93.65%）。女性在所有EGFR突变、KRAS G12C和ERBB2外显子20插入突变中发生率更高；男性在MET扩增及STK11、TP53突变中比例更高。70岁以下患者更易出现EGFR外显子19缺失/外显子20插入/T790M、KRAS G12C/D、ALK、ROS1、BRAF V600E、ERBB2外显子20插入、MET扩增、STK11和TP53变异；70岁以上患者更常见EGFR L861Q、MET外显子14跳跃突变和PIK3CA变异。本研究为晚期NSCLC患者基因组变异的性别与年龄分布差异提供了证据。
肿瘤(癌症)患者之家