Clinical and genomic characterization of neutral tumor evolution in Head and Neck Squamous Cell Carcinoma

Authors：Li, Rui; Dong, Jingsi; Zhang, Hongwan; Zhao, Qi; Li, Xingyang; Liu, Xuefei; Ye, Ying; Deng, Shuang; Lin, Dongxin; Zheng, Jian; Zuo, Zhixiang

Source：Genomics, 2020, 112(5): 3448-3454.

DOI：10.1016/j.ygeno.2020.06.030

• Neutral evolution
• Head and neck squamous cell carcinoma
• Mutation
• Immune response

Recent studies suggest that a significant proportion of cancers undergo neutral tumor evolution. We applied neutral evolution model in HNSCC patients from The Cancer Genome Atlas (TCGA). To ensure the accuracy of classification results, a sample with the purity of tumor < 0.7 was excluded. A tumor sample was considered to evolve neutrally if R-2 >= 0.98. We found that about 16% of HNSCC patients undergo neutral tumor evolution. We showed that neutral evolution HNSCC patients have better prognosis and higher activities of immune response pathways, and the numbers of co-occurring mutation events and significantly positive selection mutations are significantly less than non-neutral evolution HNSCC patients. In conclusion, we described a comprehensive clinical and genomic characteristics of neutral tumor evolution in Head and Neck Squamous Cell Carcinoma (HNSCC), and provided evidence that the evolution history of HNSCC has both clinical and biological implications.

• Institution
  中国医学科学院; 中山大学; 中国医学科学院北京协和医院