CNV Hotspots in Testicular Seminoma Tissue and Seminal Plasma

Scientific paper - Original scientific paper

• Author: Dora Raos
• Author: Irena Abramović
• Author: Miroslav Tomić
• Author: Alen Vrtarić
• Author: Tomislav Kuliš
• Author: Marijana Ćorić
• Author: Monika Ulamec
• Author: Ana Katušić Bojanac
• Author: Davor Ježek
• Author: Nino Sinčić
• 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)
• Author's institution: University of Zagreb; School of Medicine; (Department of Urology)
• 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
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pathology

Abstract (english)

Seminoma (SE) is the most frequent type of testicular tumour, affecting predominantly young men. Early detection and diagnosis of SE could significantly improve life quality and reproductive health after diagnosis and treatment. Copy number variation (CNV) has already been associated with various cancers as well as SE. In this study, we selected four genes (MAGEC2, NANOG, RASSF1A, and KITLG) for CNV analysis in genomic DNA (gDNA), which are located on chromosomes susceptible to gains, and whose aberrant expression was already detected in SE. Furthermore, CNV was analysed in cell-free DNA (cfDNA) from seminal plasma. Analysis was performed by droplet digital polymerase chain reaction (ddPCR) on gDNA from SE and nonmalignant testicular tissue. Seminal plasma cfDNA from SE patients before and after surgery was analysed, as well as from healthy volunteers. The CNV hotspot in gDNA from SE tissue was detected for the first time in all analysed genes, and for two genes, NANOG and KITLG it was reflected in cfDNA from seminal plasma. Although clinical value is yet to be determined, presented data emphasize a potential use of CNV as a potential SE biomarker from a liquid biopsy.

• Keywords (english): CNV; biomarkers; liquid biopsy; testicular seminoma
• Language: english
• Publication type: Scientific paper - Original scientific paper
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: Cancers
• Numbering: vol. 14, no. 1, 189
• e-ISSN: 2072-6694
• DOI: https://doi.org/10.3390/cancers14010189
• URN:NBN: urn:nbn:hr:105:259327
• Publication: 2021-12-31
• 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
• Project: Number: KK.01.1.1.01.0008; Title (croatian): Znanstveni centar izvrsnosti za reproduktivnu i regenerativnu medicinu – istraživanja novih platformi i potencijala; Title (english): Scientific Center of Excellence for Reproductive and Regenerative Medicin; Leader: Davor Ježek; Jurisdiction: eu
• Document URL: https://www.mdpi.com/2072-6694/14/1/189
• Type of resource: Text
• Access conditions: Open access
• Created on: 2022-07-06 11:11:50