Mutation spectrum of hotspot genes in Chinese lung adenocarcinoma population

  In China, about 400,000 people die from lung cancer each year, topping the list of deaths caused by all types of cancer. Lung adenocarcinoma is the most common type of lung cancer among its various subtypes, accounting for approximately 40% of new lung cancer patients diagnosed worldwide each year. The study of genetic mutations in lung cancer has important implications for the clinical diagnosis and prognosis of lung cancer. Recently, the Journal of Thoracic Oncology, a professional academic journal organized by the International Association for the Study of Lung Cancer, published online the latest research results conducted by Hongbin Ji’s research group in collaboration with Fudan University Cancer Hospital, reporting the mutation profiles of hot genes LKB1, EGFR and KRAS in Chinese lung adenocarcinoma population.  LKB1, also known as STK11 (serine threonine kinase 11), is a member of the serine threonine kinase family and is the causative gene for familial melanotic polyp syndrome. Previous work by Ji Hongbin’s group found that the oncogene LKB1 has an important effect on tumor metastasis, and its protein deletion significantly enhances tumor cell metastasis. Epidermal growth factor EGFR is an important molecule that mediates cell growth signals, and lung cancer patients carrying this gene mutation have a high response to Tyrosine Kinase inhibitors (TKIs) in clinical practice. direct regulation of MAPK pathway. These three genes have a significant mutation rate in Western lung cancer populations and have been studied in Asian lung cancer populations, including Korean and Japanese lung cancer populations. The overall characteristics of LKB1, EGFR and KRAS mutations in our lung cancer population are not yet fully understood.  Hongbin Ji’s group at the Institute of Biochemistry and Cellular Medicine, in collaboration with the Thoracic Surgery Research Unit led by Haiquan Chen at Fudan University Cancer Hospital, screened for important mutations in the Chinese lung adenocarcinoma population. The F354L variant of LKB1 was found to be germline inherited in 10.5% of the lung adenocarcinoma population, and two of the patients had heterozygous deletions of the F354L variant in their tumor tissues, suggesting that this locus may have an unexplored role in the development or progression of lung cancer. This suggests that this locus may have an unexplored role in the development of lung cancer. Meanwhile, the rate of EGFR mutations found in the Chinese lung adenocarcinoma population was 66.3%, and KRAS mutations were only 2.3%. Among the EGFR mutations, it is interesting to note that the mutation rate in female nonsmoking patients was as high as 83.8%, suggesting that this group of lung adenocarcinoma population has a high propensity for EGFR mutations and may be a priority population for small molecule drug therapy with TKIs. These works provide a good foundation for a comprehensive and in-depth understanding of the mutational profile of the Chinese lung cancer population.