ERBB2 mutation landscape in non-small cell lung cancer patients in Northeast China

This study aimed to explore erb-b2 receptor tyrosine kinase 2 (ERBB2) gene mutations in patients with non-small cell lung cancers (NSCLC) in Northeast China, and to analyze ERBB2 mutation subtypes and clinicopathological characteristics related to the presence of ERBB2 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 ERBB2 mutations and related clinicopathological characteristics were analyzed.

The mutation rate of ERBB2 in NSCLC was 5.58% (85/1523). Of the patients with ERBB2 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 ERBB2 mutations; the most frequently seen were ERBB2 copy number alteration (41.76%, 38/91) and ERBB2 exon 20 in-frame insertion (36.26%, 33/91). Of the patients with ERBB2 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 ERBB2 mutations was 64.3% (9/14).

ERBB2 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 ERBB2 mutations in Northeast China.