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. 2021 Dec 31;14(1):189.
doi: 10.3390/cancers14010189.

CNV Hotspots in Testicular Seminoma Tissue and Seminal Plasma

Dora Raos  1   2   3 , Irena Abramović  1   2   3 , Miroslav Tomić  4 , Alen Vrtarić  5 , Tomislav Kuliš  2   3   6 , Marijana Ćorić  1   3   7 , Monika Ulamec  2   3   8   9 , Ana Katušić Bojanac  1   3 , Davor Ježek  3   10 , Nino Sinčić  1   2   3
Affiliations

CNV Hotspots in Testicular Seminoma Tissue and Seminal Plasma

Dora Raos et al. Cancers (Basel). .

Abstract

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: CNV; biomarkers; liquid biopsy; testicular seminoma.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Copy number variation (CNV) detected in non-malignant and seminoma tissue. (A) For each analysed gene, the rounded number of CNV in gDNA is presented. (B) For each analysed gene, raw data of CNV detected in gDNA are presented. Black lines represent median with interquartile range. A statistically significant difference is indicated as * p < 0.05, ** p < 0.01, *** p < 0.001, and **** p < 0.0001. NTT, non-malignant diagnoses; SE, seminoma.
Figure 2
Figure 2
Copy number variation detected in gDNA from the referent cell line for seminoma, cfDNA from seminal plasma, and gDNA from seminoma tissue. (A) For each analysed gene, the rounded number of CNV detected in gDNA and cfDNA is presented. (B) For each analysed gene, raw data of CNV detected in gDNA and cfDNA are presented. Black lines represent median with interquartile range. A statistically significant difference is indicated as * p < 0.05, ** p < 0.001, and **** p < 0.0001. SE, seminoma; HV, healthy volunteer.
See this image and copyright information in PMC

References

    1. Lobo J., Gillis A.J.M., Jerónimo C., Henrique R., Looijenga L.H.J. Human germ cell tumors are developmental cancers: Impact of epigenetics on pathobiology and clinic. Int. J. Mol. Sci. 2019;20:258. doi: 10.3390/ijms20020258. - DOI - PMC - PubMed
    1. Sung H., Ferlay J., Siegel R.L., Laversanne M., Soerjomataram I., Jemal A., Bray F. Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries. CA Cancer J. Clin. 2021;71:209–249. doi: 10.3322/caac.21660. - DOI - PubMed
    1. Moul J.W., Schanne F.J., Thompson I.M., Frazier H.A., Peretsman S.A., Wettlaufer J.N., Rozanski T.A., Stack R.S., Kreder K.J., Hoffman K.J. Testicular cancer in blacks. A multicenter experience. Cancer. 1994;73:388–393. doi: 10.1002/1097-0142(19940115)73:2<388::AID-CNCR2820730225>3.0.CO;2-Q. - DOI - PubMed
    1. Baroni T., Arato I., Mancuso F., Calafiore R., Luca G. On the Origin of Testicular Germ Cell Tumors: From Gonocytes to Testicular Cancer. Front. Endocrinol. 2019;10:343. doi: 10.3389/fendo.2019.00343. - DOI - PMC - PubMed
    1. Raos D., Krasic J., Masic S., Abramovic I., Coric M., Kruslin B., Katusic Bojanac A., Bulic-Jakus F., Jezek D., Ulamec M., et al. In Search of TGCT Biomarkers: A Comprehensive in Silico and Histopathological Analysis. Dis. Markers. 2020;2020:8841880. doi: 10.1155/2020/8841880. - DOI - PMC - PubMed