头颈部鳞状细胞癌中性肿瘤进化的临床和基因组特征。
Clinical and genomic characterization of neutral tumor evolution in Head and Neck Squamous Cell Carcinoma.
机构信息
Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.
Department of Lung Cancer Center, Sichuan University West China Hospital, Chengdu, China.
出版信息
Genomics. 2020 Sep;112(5):3448-3454. doi: 10.1016/j.ygeno.2020.06.030. Epub 2020 Jun 20.
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 ≥ 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.
最近的研究表明，相当一部分癌症经历了中性肿瘤进化。我们将中性进化模型应用于来自癌症基因组图谱（TCGA）的 HNSCC 患者。为了确保分类结果的准确性，排除了纯度<0.7 的肿瘤样本。如果 R≥0.98，则认为肿瘤样本发生中性进化。我们发现约有 16%的 HNSCC 患者经历了中性肿瘤进化。我们表明，中性进化的 HNSCC 患者具有更好的预后和更高的免疫反应途径活性，并且共同发生的突变事件和显著阳性选择突变的数量明显少于非中性进化的 HNSCC 患者。总之，我们描述了头颈部鳞状细胞癌（HNSCC）中性肿瘤进化的全面临床和基因组特征，并提供了证据表明 HNSCC 的进化历史具有临床和生物学意义。
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