Pan Peng, Li Jingnan, Wang Bo, Tan Xiaoyan, Yin Hekun, Han Yingmin, Wang Haobin, Shi Xiaoli, Li Xiaoshuang, Xie Cuinan, Chen Longfei, Chen Lanyou, Bai Yu, Li Zhaoshen, Tian Geng
Department of Gastroenterology, Shanghai Changhai Hospital, Shanghai, China.
Department of Gastroenterology, Peking Union Medical College Hospital, Beijing, China.
Front Oncol. 2023 Jul 21;13:1067849. doi: 10.3389/fonc.2023.1067849. eCollection 2023.
Colorectal adenoma can develop into colorectal cancer. Determining the risk of tumorigenesis in colorectal adenoma would be critical for avoiding the development of colorectal cancer; however, genomic features that could help predict the risk of tumorigenesis remain uncertain.
In this work, DNA and RNA parallel capture sequencing data covering 519 genes from colorectal adenoma and colorectal cancer samples were collected. The somatic mutation profiles were obtained from DNA sequencing data, and the expression profiles were obtained from RNA sequencing data.
Despite some similarities between the adenoma samples and the cancer samples, different mutation frequencies, co-occurrences, and mutually exclusive patterns were detected in the mutation profiles of patients with colorectal adenoma and colorectal cancer. Differentially expressed genes were also detected between the two patient groups using RNA sequencing. Finally, two random forest classification models were built, one based on mutation profiles and one based on expression profiles. The models distinguished adenoma and cancer samples with accuracy levels of 81.48% and 100.00%, respectively, showing the potential of the 519-gene panel for monitoring adenoma patients in clinical practice.
This study revealed molecular characteristics and correlations between colorectal adenoma and colorectal cancer, and it demonstrated that the 519-gene panel may be used for early monitoring of the progression of colorectal adenoma to cancer.
结直肠腺瘤可发展为结直肠癌。确定结直肠腺瘤的肿瘤发生风险对于避免结直肠癌的发生至关重要；然而，有助于预测肿瘤发生风险的基因组特征仍不明确。
在本研究中，收集了来自结直肠腺瘤和结直肠癌样本的覆盖519个基因的DNA和RNA平行捕获测序数据。从DNA测序数据中获得体细胞突变谱，从RNA测序数据中获得表达谱。
尽管腺瘤样本和癌样本之间存在一些相似性，但在结直肠腺瘤患者和结直肠癌患者的突变谱中检测到了不同的突变频率、共现情况和互斥模式。使用RNA测序也在两组患者之间检测到了差异表达基因。最后，构建了两个随机森林分类模型，一个基于突变谱，一个基于表达谱。这些模型区分腺瘤和癌样本的准确率分别为81.48%和100.00%，显示了519基因组合在临床实践中监测腺瘤患者的潜力。
本研究揭示了结直肠腺瘤和结直肠癌之间的分子特征及相关性，并表明519基因组合可用于早期监测结直肠腺瘤向癌症的进展。
