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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Elsevier
2023-03-01
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Series: | Annals of Hepatology |
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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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institution | Directory Open Access Journal |
issn | 1665-2681 |
language | English |
last_indexed | 2024-04-10T00:17:50Z |
publishDate | 2023-03-01 |
publisher | Elsevier |
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series | Annals of Hepatology |
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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