Genomics · 2024
Identification of whole-genome mutations and structural variations of bile cell-free DNA in cholangiocarcinoma.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Yin Lei, Duan Anqi, Zhang Wei, Li Bin, Zhao Teng, Xu Xiaoya, Yang Lixue, Nian Baoning, Lu Kai, Chen Sheng, Li Zhikuan, Liu Jian, Duan Qiaonan, Liu Dongyu, Chen Hao, Cui Longjiu, Chang Yanxin, Kuang Yue, Zhang Dadong, Wang Xiang, Zhang Yongjie
Аннотация
Bile cell-free DNA (cfDNA) has been reported as a promising liquid biopsy tool for cholangiocarcinoma (CCA), however, the whole-genome mutation landscape and structural variants (SVs) of bile cfDNA remains unknown. Here we performed whole-genome sequencing on bile cfDNA and analyzed the correlation between mutation characteristics of bile cfDNA and clinical prognosis. TP53 and KRAS were the most frequently mutated genes, and the RTK/RAS, homologous recombination (HR), and HIPPO were top three pathways containing most gene mutations. Ten overlapping putative driver genes were found in bile cfDNA and tumor tissue. SVs such as chromothripsis and kataegis were identified. Moreover, the hazard ratio of HR pathway mutations were 15.77 (95% CI: 1.571-158.4), patients with HR pathway mutations in bile cfDNA exhibited poorer overall survival (P = 0.0049). Our study suggests that bile cfDNA contains genome mutations and SVs, and HR pathway mutations in bile cfDNA can predict poor outcomes of CCA patients.