Genetic Characteristics of Resectable Colorectal Cancer with Pulmonary Metastasis

作者全名："Qiu, Yan-Yu; Peng, Dong; Wei, Zheng-Qiang; Li, Jin-Dou; Huang, Yong-Jia; Yang, Jian-Guo; Song, Zhi-Yang; Cheng, Yong"

作者地址："[Qiu, Yan-Yu; Peng, Dong; Wei, Zheng-Qiang; Yang, Jian-Guo; Song, Zhi-Yang; Cheng, Yong] Chongqing Med Univ, Affiliated Hosp 1, Dept Gastroenterol, Chongqing 400016, Peoples R China; [Li, Jin-Dou] Jiangjin Cent Hosp Chongqing, Dept Gen Surg, Chongqing 402200, Peoples R China; [Huang, Yong-Jia] Jiangjin Cent Hosp Chongqing, Dept Pharm, Chongqing 402200, Peoples R China"

通信作者："Cheng, Y (通讯作者)，Chongqing Med Univ, Affiliated Hosp 1, Dept Gastroenterol, Chongqing 400016, Peoples R China."

来源：CANADIAN JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:000796744600001

JCR分区：Q3

影响因子：2.7

年份：2022

卷号：2022

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：　

摘要："The lung is the most common extra-abdominal metastasis site of colorectal cancer (CRC). This study aimed to investigate the genetic variation of pulmonary metastases (PM) and primary tumors in resectable CRC. The clinical data of 410 patients with PM after CRC surgery and 33 paraffin-embedded tissue samples from January 2012 to July 2019 in our hospital were collected retrospectively. Next, 450-panel gene detection technologies based on next-generation sequencing (NGS) were used to analyze the changes in the gene map and the overall variation in cancer-related genes in PM and primary tumors. After quality control, 19 samples were included in the final gene analysis. The results showed that APC (89.5%), TP53 (89.5%), and KRAS (53%) were the most common mutations in PM and primary tumors, but the gene amplification variation was enriched in primary tumors (4.6% vs. 11.4%). KRAS G12D was the most common site variation of the KRAS gene in both PM and primary tumors of CRC. There was no hotspot mutation in the TP53 locus in CRC, and the TP53 mutation in the PM was consistent with that in the primary lesion. The microsatellite instability (MSI) levels of 10 patients were MSS. The mean tumor mutation burden (TMB) of the primary tumor (5.3 muts center dot Mb(-1)) was slightly higher than that of metastasis (5.0 muts center dot Mb(-1)). In our institution, the genetic characteristics of resectable PM from CRC may be highly consistent with those of the primary tumor."

基金机构：Chongqing Key Diseases Research and Application Demonstration Program (Colorectal Cancer Prevention and Treatment Technology Research and Application Demonstration) [2019ZX003]

基金资助正文：The authors are grateful to Xun Lei for their substantial work in the statistical analysis. This study was supported by Chongqing Key Diseases Research and Application Demonstration Program (Colorectal Cancer Prevention and Treatment Technology Research and Application Demonstration (No. 2019ZX003)).