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

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 aberrat...

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Main Authors: Zhao Yang, Jianwei Liu, Feng Xue, Lei Zhang, Hui Xue, Yeye Wu, Shilei Bai, Furong Du, Xiaoxuan Wang, Wanglong Deng, Chao Song, Kui Wang
Format: Article
Language:English
Published: Elsevier 2023-03-01
Series:Annals of Hepatology
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S1665268123000029
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author Zhao Yang
Jianwei Liu
Feng Xue
Lei Zhang
Hui Xue
Yeye Wu
Shilei Bai
Furong Du
Xiaoxuan Wang
Wanglong Deng
Chao Song
Kui Wang
author_facet Zhao Yang
Jianwei Liu
Feng Xue
Lei Zhang
Hui Xue
Yeye Wu
Shilei Bai
Furong Du
Xiaoxuan Wang
Wanglong Deng
Chao Song
Kui Wang
author_sort Zhao Yang
collection DOAJ
description 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.
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spelling doaj.art-52f27ebf180c4d119dd286f87f39adc42023-03-16T05:03:22ZengElsevierAnnals of Hepatology1665-26812023-03-01282100898Genomic landscape of Chinese patients with hepatocellular carcinoma using next-generation sequencing and its association with the prognosisZhao Yang0Jianwei Liu1Feng Xue2Lei Zhang3Hui Xue4Yeye Wu5Shilei Bai6Furong Du7Xiaoxuan Wang8Wanglong Deng9Chao Song10Kui Wang11Second Department of Hepatic Surgery, Shanghai Eastern Hepatobiliary Hospital, Shanghai, ChinaSecond Department of Hepatic Surgery, Shanghai Eastern Hepatobiliary Hospital, Shanghai, ChinaSecond Department of Hepatic Surgery, Shanghai Eastern Hepatobiliary Hospital, Shanghai, ChinaSecond Department of Hepatic Surgery, Shanghai Eastern Hepatobiliary Hospital, Shanghai, ChinaSecond Department of Hepatic Surgery, Shanghai Eastern Hepatobiliary Hospital, Shanghai, ChinaSecond Department of Hepatic Surgery, Shanghai Eastern Hepatobiliary Hospital, Shanghai, ChinaSecond Department of Hepatic Surgery, Shanghai Eastern Hepatobiliary Hospital, Shanghai, ChinaState Key Laboratory of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd., Nanjing, Jiangsu, China; Department of Medicine, Nanjing Simcere Medical Laboratory Science Co., Ltd., Nanjing, Jiangsu, ChinaState Key Laboratory of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd., Nanjing, Jiangsu, China; Department of Medicine, Nanjing Simcere Medical Laboratory Science Co., Ltd., Nanjing, Jiangsu, ChinaState Key Laboratory of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd., Nanjing, Jiangsu, China; Department of Medicine, Nanjing Simcere Medical Laboratory Science Co., Ltd., Nanjing, Jiangsu, ChinaState Key Laboratory of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd., Nanjing, Jiangsu, China; Department of Medicine, Nanjing Simcere Medical Laboratory Science Co., Ltd., Nanjing, Jiangsu, ChinaSecond Department of Hepatic Surgery, Shanghai Eastern Hepatobiliary Hospital, Shanghai, China; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S1665268123000029Hepatocellular carcinomaGenomic profilingNext-generation sequencingEarly recurrence
spellingShingle Zhao Yang
Jianwei Liu
Feng Xue
Lei Zhang
Hui Xue
Yeye Wu
Shilei Bai
Furong Du
Xiaoxuan Wang
Wanglong Deng
Chao Song
Kui Wang
Genomic landscape of Chinese patients with hepatocellular carcinoma using next-generation sequencing and its association with the prognosis
Annals of Hepatology
Hepatocellular carcinoma
Genomic profiling
Next-generation sequencing
Early recurrence
title Genomic landscape of Chinese patients with hepatocellular carcinoma using next-generation sequencing and its association with the prognosis
title_full Genomic landscape of Chinese patients with hepatocellular carcinoma using next-generation sequencing and its association with the prognosis
title_fullStr Genomic landscape of Chinese patients with hepatocellular carcinoma using next-generation sequencing and its association with the prognosis
title_full_unstemmed Genomic landscape of Chinese patients with hepatocellular carcinoma using next-generation sequencing and its association with the prognosis
title_short Genomic landscape of Chinese patients with hepatocellular carcinoma using next-generation sequencing and its association with the prognosis
title_sort genomic landscape of chinese patients with hepatocellular carcinoma using next generation sequencing and its association with the prognosis
topic Hepatocellular carcinoma
Genomic profiling
Next-generation sequencing
Early recurrence
url http://www.sciencedirect.com/science/article/pii/S1665268123000029
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