Genomic landscape of Chinese patients with hepatocellular carcinoma using next-generation sequencing and its association with the prognosis

Autor: Zhao Yang, Jianwei Liu, Feng Xue, Lei Zhang, Hui Xue, Yeye Wu, Shilei Bai, Furong Du, Xiaoxuan Wang, Wanglong Deng, Chao Song, Kui Wang
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Annals of Hepatology, Vol 28, Iss 2, Pp 100898- (2023)
Druh dokumentu: article
ISSN: 1665-2681
DOI: 10.1016/j.aohep.2023.100898
Popis: Introduction and Objectives: The occurrence of hepatocellular carcinoma (HCC) is not entirely clear at present. This study comprehensively described the landscape of genetic aberrations in Chinese HCC patients using next-generation sequencing (NGS) and investigated the association of genetic aberrations with clinicopathological characteristics and prognosis. Materials and Methods: The clinicopathological data of 78 HCC patients undergoing surgery were retrospectively analyzed. The genomic DNA extracted from tumor samples was detected using a NGS-based gene panel. Results: Mutations in TP53 (55%), TERT (37%), MUC16 (29%) and CTNNB1 (27%) were most common in HCC. The co-occurrences between frequently mutated genes occurring ≥10% were relatively common in HCC. Forty-eight (61.5%) cases harbored DNA damage repair gene mutations, mainly including PRKDC (11.5%), SLX4 (9.0%), ATM (7.7%), MSH6 (7.7%), and PTEN (6.4%), and 39 (50.0%) patients had at least one actionable mutation. FH amplification (odds ratio: 3.752, 95% confidence interval: 1.170-12.028, p=0.026) and RB1 mutations (odds ratio: 13.185, 95% confidence interval: 1.214-143.198, p=0.034) were identified as the independent risk factors for early postoperative recurrence in HCC. Conclusions: Our study provides a novel insight into the genomic profiling of Chinese HCC patients. FH amplification and RB1 mutations may be associated with an increased risk of early postoperative recurrence in HCC.
Databáze: Directory of Open Access Journals