engleski

Detected CNV hotspots as potential seminoma biomarkers from seminal plasma

Testicular seminoma (SE) represents the most common type of testicular germ cell tumours, which are affecting young men. Thus, it is important to find novel biomarkers for early detection which could improve the life and reproductive health of the patients after the diagnosis and treatment. Copy number variation (CNV) has already been associated with various cancers as well as with SE. In this study, we selected two genes, NANOG and KITLG for CNV analysis which are located on chromosomes susceptible to gains, and whose aberrant expression was already detected in SE. CNV analysis was performed on genomic DNA (gDNA) and cell-free DNA (cfDNA) from seminal plasma as liquid biopsy. The aim of the study was to investigate the CNV of selected genes and determine their potential as a possible SE biomarker. Twenty-four SE patients and thirty-five healthy volunteers (HV) were recruited for this study. CNV 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. Statistically significant gains were detected in gDNA for both analysed genes. Comparison between CNVs detected in cfDNA from seminal plasma of HV, preoperative, and postoperative samples disclosed that CNV of NANOG and KITLG was increased in preoperative samples, indicating the reflection of increased NANOG and KITLG CNV from gDNA SE tissue in cfDNA from seminal plasma. Although statistically not significant, a decrease in CNV trend in analysed genes in postoperative compared to preoperative seminal plasma samples indicates that operational treatment induces at least slight normalization in CNV to an HV level. 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.

CNV ; seminoma ; seminal plasma

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