Genomic characterization of peritoneal lavage cytology-positive gastric cancer  

作　　者：Zhouqiao Wu Tingfei Gu Changxian Xiong Jinyao Shi Jingpu Wang Ting Guo Xiaofang Xing Fei Pang Ning He Rulin Miao Fei Shan Yuan Zhou Ziyu Li Jiafu Ji 

机构地区：[1]Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education/Beijing),Gastrointestinal Cancer Center,Peking University Cancer Hospital&Institute,Beijing 100142,China [2]Department of Biomedical Informatics,Department of Physiology and Pathophysiology,Center for Noncoding RNA Medicine,MOE Key Lab of Cardiovascular Sciences,School of Basic Medical Sciences,Peking University,Beijing 100191,China [3]State Key Laboratory of Holistic Integrative Management of Gastrointestinal Cancers,Beijing Key Laboratory of Carcinogenesis and Translational Research,Gastrointestinal Cancer Center,Peking University Cancer Hospital&Institute,Beijing 100142,China

出　　处：《Chinese Journal of Cancer Research》2024年第1期66-77,共12页中国癌症研究（英文版）

基　　金：supported by the National Natural Science Foundation of China (No. U20A20371);the National Key Technology Research and Development Program of the Ministry of Science and Technology of China (No. D171100006517004);Beijing Municipal Administration of Hospitals’ Youth Program (QML20191103);Clinical Medicine Plus X-Young Scholars Project, Peking University;the Fundamental Research Funds for the Central Universities and the Science Foundation of Peking University Cancer Hospital。

摘　　要：Objective: Positive peritoneal lavege cytology(CY1) gastric cancer is featured by dismal prognosis, with high risks of peritoneal metastasis. However, there is a lack of evidence on pathogenic mechanism and signature of CY1and there is a continuous debate on CY1 therapy. Therefore, exploring the mechanism of CY1 is crucial for treatment strategies and targets for CY1 gastric cancer.Methods: In order to figure out specific driver genes and marker genes of CY1 gastric cancer, and ultimately offer clues for potential marker and risk assessment of CY1, 17 cytology-positive gastric cancer patients and 31matched cytology-negative gastric cancer patients were enrolled in this study. The enrollment criteria were based on the results of diagnostic laparoscopy staging and cytology inspection of exfoliated cells. Whole exome sequencing was then performed on tumor samples to evaluate genomic characterization of cytology-positive gastric cancer.Results: Least absolute shrinkage and selection operator(LASSO) algorithm identified 43 cytology-positive marker genes, while Mut Sig CV identified 42 cytology-positive specific driver genes. CD3G and CDKL2 were both driver and marker genes of CY1. Regarding mutational signatures, driver gene mutation and tumor subclone architecture, no significant differences were observed between CY1 and negative peritoneal lavege cytology(CY0).Conclusions: There might not be distinct differences between CY1 and CY0, and CY1 might represent the progression of CY0 gastric cancer rather than constituting an independent subtype. This genomic analysis will thus provide key molecular insights into CY1, which may have a direct effect on treatment recommendations for CY1and CY0 patients, and provides opportunities for genome-guided clinical trials and drug development.

关 键 词：CYTOLOGY gastric carcinoma peritoneal metastasis whole exome sequencing 

分 类 号：R735.2[医药卫生—肿瘤]