cfDNA methylation in liquid biopsies as potential testicular seminoma biomarker

Scientific paper - Original scientific paper

• Author: Dora Raos
• Author: Davor Oršolić
• Author: Silvija Mašić
• Author: Miroslav Tomić
• Author: Jure Krasić
• Author: Igor Tomašković
• Author: Nora Nikolac Gabaj
• Author: Nina Gelo
• Author: Željko Kaštelan
• Author: Tomislav Kuliš
• Author: Ana Katušić Bojanac
• Author: Anja Barešić
• Author: Monika Ulamec
• Author: Davor Ježek
• Author: Nino Sinčić
• Author's institution: University of Zagreb; School of Medicine; (Department of Histology and Embryology)
• Author's institution: University of Zagreb; School of Medicine; (Department of Medical Biology)
• Author's institution: University of Zagreb; School of Medicine; (Department of Pathology)
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pathology
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Basic Medical Sciences; Cytology, Histology and Embryology
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Urology

Abstract (english)

Background: Seminoma is a testicular tumor type, routinely diagnosed after orchidectomy. As cfDNA represents a source of minimally invasive seminoma patient management, this study aimed to investigate whether cfDNA methylation of six genes from liquid biopsies, have potential as novel seminoma biomarkers.

Materials & methods: cfDNA methylation from liquid biopsies was assessed by pyrosequencing and compared with healthy volunteers' samples.

Results: Detailed analysis revealed specific CpGs as possible seminoma biomarkers, but receiver operating characteristic curve analysis showed modest diagnostic performance. In an analysis of panels of statistically significant CpGs, two DNA methylation panels emerged as potential seminoma screening panels, one in blood CpG8/CpG9/CpG10 (KITLG) and the other in seminal plasma CpG1(MAGEC2)/CpG1(OCT3/4).

Conclusion: The presented data promote the development of liquid biopsy epigenetic biomarkers in the screening of seminoma patients.

• Keywords (english): Biomarkers, Tumor / genetics; Cell-Free Nucleic Acids; DNA Methylation; Humans; Liquid Biopsy; Male; Seminoma / diagnosis; Seminoma / genetics; Testicular Neoplasms / diagnosis; Testicular Neoplasms / genetics
• Language: english
• Publication type: Scientific paper - Original scientific paper
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: Epigenomics
• Numbering: vol. 14, no. 23, pp. 1493-1507
• p-ISSN: 1750-1911
• e-ISSN: 1750-192X
• DOI: https://doi.org/10.2217/epi-2022-0331
• URN:NBN: urn:nbn:hr:105:137437
• Publication: 2022-12
• Project: Number: KK.01.1.1.01.0008; Title (english): Reproduktivna i regenerativna medicina - istraživanje novih platformi i potencijala; Leader: Ana Katušić Bojanac; Jurisdiction: Croatia
• Project: Number: IP-2016-06-3692; Title (croatian): Epigenetički biomarkeri u krvi i ejakulatu bolesnika sa seminomom testisa; Acronym: epiSem; Leader: Davor Ježek; Jurisdiction: Croatia; Funding stream: IP
• Document URL: https://www.futuremedicine.com/doi/10.2217/epi-2022-0331
• Type of resource: Text
• Access conditions: Open access
• Created on: 2024-01-22 08:40:49