Translational Oncology Research Lab, Jilin Cancer Hospital, Changchun, China.
Jilin Provincial Key Laboratory of Molecular Diagnostics for Lung Cancer, Jilin Cancer Hospital, Changchun, China.
Tumori. 2023 Jun;109(3):276-281. doi: 10.1177/03008916221101426. Epub 2022 Jun 19.
This study aimed to explore erb-b2 receptor tyrosine kinase 2 () gene mutations in patients with non-small cell lung cancers (NSCLC) in Northeast China, and to analyze mutation subtypes and clinicopathological characteristics related to the presence of mutations.
In this study, 1087 tissue samples, 368 whole blood samples, and 68 pleural effusion samples from 1349 NSCLC were collected. Next-generation sequencing (NGS) was used to perform genetic testing on the samples. The proportion of patients with mutations and related clinicopathological characteristics were analyzed.
The mutation rate of in NSCLC was 5.58% (85/1523). Of the patients with mutations, 27.63% (21/76) were over 65 years old, 59.21% (45/76) were women, and 68.42% (52/76) were non-smokers. The majority of tumors were adenocarcinomas (92.1%, 70/76) and stage III and IV diseases accounted for 81.58% (62/76) of all cases. There were 14 subtypes of mutations; the most frequently seen were copy number alteration (41.76%, 38/91) and exon 20 in-frame insertion (36.26%, 33/91). Of the patients with mutations, 24 had concurrent epidermal growth factor receptor mutations, seven had mesenchymal epithelial transition factor amplifications, and three had anaplastic lymphoma kinase mutations. The agreement between tissue and paired blood samples in the presence of mutations was 64.3% (9/14).
mutations in Northeast China NSCLC patients have a unique molecular spectrum. Our work can provide guidance for the clinical diagnosis and treatment of patients with mutations in Northeast China.
本研究旨在探索中国东北地区非小细胞肺癌（NSCLC）患者中 erb-b2 受体酪氨酸激酶 2 () 基因突变情况，并分析 突变亚型与存在 突变相关的临床病理特征。
本研究共收集了 1349 例 NSCLC 患者的 1087 份组织样本、368 份全血样本和 68 份胸腔积液样本。采用下一代测序（NGS）对样本进行基因检测。分析了 突变患者的比例及相关临床病理特征。
NSCLC 中 的突变率为 5.58%（85/1523）。 突变患者中，65 岁以上占 27.63%（21/76），女性占 59.21%（45/76），从不吸烟占 68.42%（52/76）。多数肿瘤为腺癌（92.1%，70/76），III 期和 IV 期疾病占所有病例的 81.58%（62/76）。 突变有 14 种亚型，最常见的是 拷贝数增加（41.76%，38/91）和 外显子 20 框内插入（36.26%，33/91）。 突变患者中，24 例伴有表皮生长因子受体突变，7 例伴有间充质上皮转化因子扩增，3 例伴有间变性淋巴瘤激酶突变。组织与配对血样本中 突变的一致性为 64.3%（9/14）。
中国东北地区 NSCLC 患者的 突变具有独特的分子谱。本研究可为中国东北地区 突变患者的临床诊断和治疗提供指导。
