A team of Chinese researchers led by Wang Minghui at Sun Yat-sen University has conducted deep next-generation DNA sequencing (NGS) on tumor tissues and matched blood specimens from over 10,000 patients in China using a 450-gene comprehensive assay. The study provides a comprehensive comparison of somatically altered genes, the distribution of tumor mutational burden (TMB), gene fusion patterns, and the spectrum of various somatic alterations between Chinese and American patient populations.
Study Findings
The major tumor types studied were non-small cell lung cancer (NSCLC; 20%), colorectal carcinoma (CRC; 12%), liver hepatocellular carcinoma (LIHC; 11%), gastric cancer (GC; 8%), esophageal carcinoma (ESCA; 6%), soft tissue sarcoma (STS; 6%), intrahepatic cholangiocarcinoma (ICC; 5%), pancreatic cancer (PAC; 5%), extrahepatic cholangiocarcinoma (ECC; 3%), and breast carcinoma (BRCA; 3%). These closely mirror clinical practice in China in terms of incidence and mortality.
Among the findings, 64% of cancers in Chinese patients in the study were found to have clinically actionable genomic alterations. Analysis of significantly mutated cancer-related genes in solid tumors found the most frequently altered genes to be TP53 (58% of cases), KRAS (18%), TERT (14%), EGFR (13%), APC (13%), CDKN2A (12%), and PIK3CA (11%). The most common mutations were KRASG12, EGFRL858, and TP53R273. Genomic differences associated with clinical features were mainly distributed in colorectal cancer (CRC) and non-small cell lung cancer (NSCLC). For example, the study found that a high proportion of Chinese patients with lung cancer would likely benefit from immunotherapy.
The study, titled “Landscape of somatic alterations in large-scale solid tumors from an Asian population,” was published in Nature Communications.-Fineline Info & Tech