유수종 (서울대학교 의과대학) | 한빛사논문 > 한빛사

한빛사논문

조회439

서울대학교 의과대학

CV File 503 kb

Mol. Cancer, Oct 06 2023, 22 (1) 164 | https://doi.org/10.1186/s12943-023-01872-1 A circulating cell-free DNA methylation signature for the detection of hepatocellular carcinoma.

Si-Cho Kim ^1,2†, Da-Won Kim ^1,2†, Eun Ju Cho ^3†, Jin-Young Lee ⁴, Jiwon Kim ⁵, Chaesun Kwon ⁵, Jeongsil Kim-Ha ⁵, Suk Kyun Hong ⁶, YoungRok Choi ⁶, Nam-Joon Yi ⁶, Kwang-Woong Lee ⁶, Kyung-Suk Suh ⁶, Won Kim ⁷, Woojin Kim ⁸, Hyunsoo Kim ^8,9, Yoon Jun Kim ³, Jung-Hwan Yoon ³, Su Jong Yu ^3* and Young-Joon Kim ^1,4*

¹Interdisciplinary Program of Integrated OMICS for Biomedical Science, Yonsei University, Seoul, Republic of Korea
²R&D center, LepiDyne Inc, Seoul, Republic of Korea
³Department of Internal Medicine and Liver Research Institute, Seoul National University College of Medicine, Seoul 03080, Republic of Korea
⁴Department of Biochemistry, College of Life Science and Biotechnology, Yonsei University, Seoul 03722, Republic of Korea
⁵Department of Integrative Bioscience & Biotechnology, College of Life Sciences, Sejong University, Seoul, Republic of Korea
⁶Department of Surgery, Seoul National University College of Medicine, Seoul, Republic of Korea
⁷Department of Internal Medicine, Seoul National University College of Medicine, Seoul Metropolitan Government Boramae Medical Center, Seoul, Republic of Korea
⁸Department of Bio-AI convergence, Chungnam National University, Daejeon, Republic of Korea
⁹Department of Convergent Bioscience and Informatics, Chungnam National University, Daejeon, Republic of Korea

^†Si-Cho Kim, Da-Won Kim and Eun Ju Cho have contributed equally to this work.
^*Corresponding authors: correspondence to Su Jong Yu or Young-Joon Kim

Abstract

To address the shortcomings of current hepatocellular carcinoma (HCC) surveillance tests, we set out to find HCC-specific methylation markers and develop a highly sensitive polymerase chain reaction (PCR)-based method to detect them in circulating cell-free DNA (cfDNA). The analysis of large methylome data revealed that Ring Finger Protein 135 (RNF135) and Lactate Dehydrogenase B (LDHB) are universally applicable HCC methylation markers with no discernible methylation level detected in any other tissue types. These markers were used to develop Methylation Sensitive High-Resolution Analysis (MS-HRM), and their diagnostic accuracy was tested using cfDNA from healthy, at-risk, and HCC patients. The combined MS-HRM RNF135 and LDHB analysis detected 57% of HCC, outperforming the alpha-fetoprotein (AFP) test's sensitivity of 45% at comparable specificity. Furthermore, when used with the AFP test, the methylation assay can detect 70% of HCC. Our findings suggest that the cfDNA methylation assay could be used for HCC liquid biopsy.

논문정보

형식Research article
게재일2023년 10월 (BRIC 등록일 2023-10-10)
연구진국내 연구진
분야 생명과학 > 유전학

댓글 작성 로그인

CV 열람하기

연락처 보기