Oncogenic Genetic Alterations in Non-Small-Cell Lung Cancer (NSCLC) in Southwestern China.
Oncogenic Genetic Alterations in Non-Small-Cell Lung Cancer (NSCLC) in Southwestern China.
复制标题
中国西南地区非小细胞肺癌 (NSCLC) 的致癌基因改变
DOI：
10.2147/cmar.s266069
复制
发表时间：
2020
影响因子：
3.3
通讯作者：
Zhou Y
中科院分区：
文献类型：
--
作者：
Ma Y;Li Q;Du Y;Chen W;Zhao G;Liu X;Li H;Liu J;Shen Z;Ma L;Zhou Y
目的探讨中国西南地区非小细胞肺癌（NSCLC）的致癌基因改变（GAs）。患者和方法我们首先收集了579例经病理证实的NSCLC标本，然后使用下一代测序（NGS）来评估DNA样本中的GA。组织和血浆样本均由28名患者提供。此外，进行了基于样本类型、一致性和GA类型的亚组分析。结果579例患者中，NGS法检出GAs的占61.8%（358/579）。229例患者（39.6%）携带EGFR突变，63例（10.9%）携带KRAS突变，13例（2.2%）携带BRAF突变，30例（5.18%）携带ALK融合，13例（2.2%）携带ROS 1融合。我们发现女性（p < 0.01）、非吸烟者（p < 0.001）、腺癌（p < 0.001）和组织（p = 0.03）的EGFR突变率相对较高。值得注意的是，宣威NSCLC患者的EGFR突变模式与非宣威NSCLC患者相比存在显著差异（G719 X + S768 I突变和多基因改变较高，但外显子19缺失突变和单基因改变较少）。我们发现腺癌（p = 0.02）、恶性肿瘤家族史（p = 0.03）、宣威起源（p < 0.001）和组织（p = 0.04）与较高数量的KRAS突变相关。亚组分析显示，ALK（p < 0.001）和ROS 1（p < 0.05）融合和罕见EGFR突变（p < 0.001）与非汉族患者相关。结论云南省宣威地区非汉族NSCLC患者与非汉族NSCLC患者GAs的患病率有明显的差异。
Purpose To investigate the impact of oncogenic genetic alterations (GAs) on non-small-cell lung cancer (NSCLC) in southwestern China. Patients and Methods We first collected 579 pathologically confirmed NSCLC specimens and then used next-generation sequencing (NGS) to evaluate the DNA samples for GAs. Both the tissue and plasma samples were provided by 28 patients. Furthermore, subgroup analyses based on sample type, concordance, and GA type were carried out. Results GAs were detected by NGS in 61.8% (358/579) of patients. Two hundred and twenty-nine patients (39.6%) harbored EGFR mutations, 63 (10.9%) harbored KRAS mutations, 13 (2.2%) harbored BRAF mutations, 30 (5.18%) harbored ALK fusions, and 13 (2.2%) had ROS1 fusions. We found that females (p < 0.01), nonsmokers (p < 0.001), adenocarcinoma (p < 0.001), and tissue (p = 0.03) had a relatively high EGFR mutation rate. Notably, NSCLC patients from Xuanwei had a significantly different mutational pattern for EGFR in comparison with that of non-Xuanwei patients (higher G719X + S768I mutations and multiple gene alterations, but fewer exon 19 deletion mutations and single gene alterations). We found that adenocarcinoma (p = 0.02), family history of malignancy (p = 0.03), Xuanwei origin (p < 0.001), and tissue (p = 0.04) were associated with a higher number of KRAS mutations. Subgroup analysis showed that ALK (p < 0.001) and ROS1 (p < 0.05) fusions and rare EGFR mutations (p < 0.001) were associated with non-Han ethnic patients. Conclusion Yunnan NSCLC patients from Xuanwei and non-Han ethnic patients had an obviously unique prevalence of GAs.