Department of Oncology, Tianjin Academy of Traditional Chinese Medicine Affiliated Hospital, Tianjin, China.
Department of Esophageal Oncology, National Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy of Tianjin, Tianjin's Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, Tianjin, China.
Cancer Lett. 2020 Feb 1;470:181-190. doi: 10.1016/j.canlet.2019.11.022. Epub 2019 Nov 23.
Most cancers are caused by somatic mutations. Some common mutations in the same cancer type can form a "signature" to specifically predict the prognosis or to distinguish it from other cancers. In this study, 710 somatic cell mutations were identified in 142 cases, including digestive, lung and urogenital cancers, and the digestive cancers were further divided into liver, stomach, intestinal, esophageal and cardia cancer. The above mutations were located in 166 genes. In addition, a group of high-frequency mutation genes with specific characteristics were screened to form predictive signatures for each cancer. Verification using TCGA suggested that the signatures could predict the stages, progression-free survival, and overall survival of digestive, intestinal, and liver cancers (P < 0.05). The validation cases further confirmed the predictive role of digestive and liver cancers signatures in diagnosis and prognosis. Overall, this study established predictive signatures for different cancer systems and their subtypes. These findings enable a better understanding in cancer genome, and contribute to the personalized diagnosis and treatment.
大多数癌症是由体细胞突变引起的。某些相同癌症类型中的常见突变可以形成“特征”，专门用于预测预后或将其与其他癌症区分开来。在这项研究中，在 142 例包括消化、肺和泌尿生殖系统癌症的病例中鉴定出了 710 个体细胞突变，其中消化癌进一步分为肝癌、胃癌、肠癌、食管癌和贲门癌。上述突变位于 166 个基因中。此外，筛选了一组具有特定特征的高频突变基因，为每种癌症形成预测特征。使用 TCGA 的验证表明，这些特征可预测消化、肠和肝癌的分期、无进展生存期和总生存期（P<0.05）。验证病例进一步证实了消化和肝癌特征在诊断和预后中的预测作用。总的来说，本研究为不同的癌症系统及其亚型建立了预测特征。这些发现有助于更好地了解癌症基因组，并有助于个性化诊断和治疗。
