[논문]Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma

Chae, Hyojin; Sung, Pil Soo; Choi, Hayoung; Kwon, Ahlm; Kang, Dain; Kim, Yonggoo; Kim, Myungshin; Yoon, Seung Kew

doi:10.3343/alm.2021.41.2.198

Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma 원문보기

Annals of laboratory medicine, v.41 no.2, 2021년, pp.198 - 206

Chae, Hyojin (Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea) , Sung, Pil Soo (Department of Internal Medicine, Seoul St. Mary’s Hospital, The Catholic University Liver Research Center, College of Medicine, The Catholic University of Korea, Seoul, Korea) , Choi, Hayoung (Catholic Genetic Laboratory Center, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea) , Kwon, Ahlm (Catholic Genetic Laboratory Center, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea) , Kang, Dain (Catholic Genetic Laboratory Center, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea) , Kim, Yonggoo (Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea) , Kim, Myungshin (Department of Laboratory Medicine, College of Medi) , Yoon, Seung Kew

Abstract ▼ AI-Helper

BackgroundHepatocellular carcinoma (HCC) is the second-most-common cause of cancer-related deaths worldwide, and an accurate and non-invasive biomarker for the early detection and monitoring of HCC is required. We assessed pathogenic variants of HCC driver genes in cell-free DNA (cfDNA) from HCC patients who had not undergone systemic therapy.MethodsPlasma cfDNA was collected from 20 HCC patients, and deep sequencing was performed using a customized cfDNA next-generation sequencing panel, targeting the major HCC driver genes (TP53, CTNNB1, TERT) that incorporates molecular barcoding.ResultsIn 13/20 (65%) patients, we identified at least one pathogenic variant of two major HCC driver genes (TP53 and CTNNB1), including 16 variants of TP53 and nine variants of CTNNB1. The TP53 and CTNNB1 variants showed low allele frequencies, with median values of 0.17% (range 0.06%–6.99%) and 0.07% (range 0.05%–0.96%), respectively. However, the molecular coverage of variants was sufficient, with median values of 5,543 (range 2,317–9,088) and 7,568 (range 2,400–9,633) for TP53 and CTNNB1 variants, respectively.ConclusionsOur targeted DNA sequencing successfully identified low-frequency pathogenic variants in the cfDNA from HCC patients by achieving high coverage of unique molecular families. Our results support the utility of cfDNA analysis to identify somatic gene variants in HCC patients.

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참고문헌 (25)

1 Ferlay J Soerjomataram I Dikshit R Eser S Mathers C Rebelo M 2015 Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012 Int J Cancer 136 E359 86 10.1002/ijc.29210 25220842

상세보기
2 Korean Liver Cancer Association and National Cancer Center 2019 2018 Korean Liver Cancer Association-National Cancer Center Korea practice guidelines for the management of hepatocellular carcinoma Gut Liver 13 227 99 10.5009/gnl19024 31060120

상세보기
3 Farokhizadeh Z Dehbidi S Geramizadeh B Yaghobi R Malekhosseini SA Behmanesh M 2019 Association of microRNA polymorphisms with hepatocellular carcinoma in an Iranian population Ann Lab Med 39 58 66 10.3343/alm.2019.39.1.58 30215231

상세보기
4 Yang JD 2019 Detect or not to detect very early stage hepatocellular carcinoma? The western perspective Clin Mol Hepatol 25 335 43 10.3350/cmh.2019.0010 30924328

상세보기
5 Yang K Sung PS You YK Kim DG Oh JS Chun HJ 2019 Pathologic complete response to chemoembolization improves survival outcomes after curative surgery for hepatocellular carcinoma: predictive factors of response HPB (Oxford) 21 1718 26 10.1016/j.hpb.2019.04.017 31171489

상세보기
6 Sung PS Yang H Na GH Hwang S Kang D Jang JW 2017 Long-term outcome of liver resection versus transplantation for hepatocellular carcinoma in a region where living donation is a main source Ann Transplant 22 276 84 10.12659/AOT.904287 28473688

상세보기
7 Li VD Li KH Li JT 2019 TP53 mutations as potential prognostic markers for specific cancers: analysis of data from The Cancer Genome Atlas and the International Agency for Research on Cancer TP53 Database J Cancer Res Clin Oncol 145 625 36 10.1007/s00432-018-2817-z 30542790

상세보기
8 Khemlina G Ikeda S Kurzrock R 2017 The biology of hepatocellular carcinoma: implications for genomic and immune therapies Mol Cancer 16 149 10.1186/s12943-017-0712-x 28854942

상세보기
9 Huang Z Hua D Hu Y Cheng Z Zhou X Xie Q 2012 Quantitation of plasma circulating DNA using quantitative PCR for the detection of hepatocellular carcinoma Pathol Oncol Res 18 271 6 10.1007/s12253-011-9438-z 21779787

상세보기
10 Yang YJ Chen H Huang P Li CH Dong ZH Hou YL 2011 Quantification of plasma hTERT DNA in hepatocellular carcinoma patients by quantitative fluorescent polymerase chain reaction Clin Invest Med 34 E238 10.25011/cim.v34i4.15366 21810382
11 Schulze K Imbeaud S Letouze E Alexandrov LB Calderaro J Rebouissou S 2015 Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets Nat Genet 47 505 11 10.1038/ng.3252 25822088

상세보기
12 Totoki Y Tatsuno K Covington KR Ueda H Creighton CJ Kato M 2014 Trans-ancestry mutational landscape of hepatocellular carcinoma genomes Nat Genet 46 1267 73 10.1038/ng.3126 25362482

상세보기
13 Diehl F Schmidt K Choti MA Romans K Goodman S Li M 2008 Circulating mutant DNA to assess tumor dynamics Nat Med 14 985 90 10.1038/nm.1789 18670422

상세보기
14 Ulrich BC Paweletz CP 2018 Cell-free DNA in oncology: gearing up for clinic Ann Lab Med 38 1 8 10.3343/alm.2018.38.1.1 29071812

상세보기
15 Vollbrecht C Lehmann A Lenze D Hummel M 2018 Validation and comparison of two NGS assays for the detection of EGFR T790M resistance mutation in liquid biopsies of NSCLC patients Oncotarget 9 18529 39 10.18632/oncotarget.24908 29719623

상세보기
16 Cancer Genome Atlas Research Network 2017 Comprehensive and integrative genomic characterization of hepatocellular carcinoma Cell 169 1327 41.e23 10.1016/j.cell.2017.05.046, 28622513

상세보기
17 Fujimoto A Furuta M Totoki Y Tsunoda T Kato M Shiraishi Y 2016 Whole-genome mutational landscape and characterization of noncoding and structural mutations in liver cancer Nat Genet 48 500 9 10.1038/ng.3547 27064257

상세보기
18 Heimbach JK Kulik LM Finn RS Sirlin CB Abecassis MM Roberts LR 2018 AASLD guidelines for the treatment of hepatocellular carcinoma Hepatology 67 358 80 10.1002/hep.29086 28130846

상세보기
19 Jeong TD Kim MH Park S Chung HS Lee JW Chang JH 2019 Effects of pre-analytical variables on cell-free DNA extraction for liquid biopsy Lab Med Online 9 45 56 10.3343/lmo.2019.9.2.45

상세보기
20 He HJ Stein EV Konigshofer Y Forbes T Tomson FL Garlick R 2019 Multilaboratory assessment of a new reference material for quality assurance of cell-free tumor DNA measurements J Mol Diagn 21 658 76 10.1016/j.jmoldx.2019.03.006 31055023

상세보기
21 Rebouissou S Franconi A Calderaro J Letouze E Imbeaud S Pilati C 2016 Genotype-phenotype correlation of CTNNB1 mutations reveals different β-catenin activity associated with liver tumor progression Hepatology 64 2047 61 10.1002/hep.28638 27177928

상세보기
22 Kaseb AO Sanchez NS Sen S Kelley RK Tan B Bocobo AG 2019 Molecular profiling of hepatocellular carcinoma using circulating cellfree DNA Clin Cancer Res 25 6107 18 10.1158/1078-0432.CCR-18-3341 31363003

상세보기
23 Howell J Atkinson SR Pinato DJ Knapp S Ward C Minisini R 2019 Identification of mutations in circulating cell-free tumour DNA as a biomarker in hepatocellular carcinoma Eur J Cancer 116 56 66 10.1016/j.ejca.2019.04.014 31173963

상세보기
24 Schmitt MW Kennedy SR Salk JJ Fox EJ Hiatt JB Loeb LA 2012 Detection of ultra-rare mutations by next-generation sequencing Proc Natl Acad Sci U S A 109 14508 13 10.1073/pnas.1208715109 22853953

상세보기
25 Ng CKY Di Costanzo GG Tosti N Paradiso V Coto-Llerena M Roscigno G 2018 Genetic profiling using plasma-derived cell-free DNA in therapy-naive hepatocellular carcinoma patients: a pilot study Ann Oncol 29 1286 91 10.1093/annonc/mdy083 29509837

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Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma 원문보기

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Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma 원문보기

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