Testicular cancer from diagnosis to epigenetic factors

Mariarosaria Boccellino, Daniela Vanacore, Silvia Zappavigna, Carla Cavaliere, Sabrina Rossetti, Carmine D'Aniello, Paolo Chieffi, Evzen Amler, Carlo Buonerba, Giuseppe Di Lorenzo, Rossella Di Franco, Alessandro Izzo, Raffaele Piscitelli, Gelsomina Iovane, Paolo Muto, Gerardo Botti, Sisto Perdonà, Michele Caraglia, Gaetano Facchini

Research output: Contribution to journalReview articlepeer-review


Testicular cancer (TC) is one of the most common neoplasms that occurs in male and includes germ cell tumors (GCT), sex cord-gonadal stromal tumors and secondary testicular tumors. Diagnosis of TC involves the evaluation of serum tumor markers alpha-fetoprotein, human chorionic gonadotropin and lactate dehydrogenase, but clinically several types of immunohistochemical markers are more useful and more sensitive in GCT, but not in teratoma. These new biomarkers are genes expressed in primordial germ cells/gonocytes and embryonic pluripotency-related cells but not in normal adult germ cells and they include PLAP, OCT3/4 (POU5F1), NANOG, SOX2, REX1, AP-2γ (TFAP2C) and LIN28. Gene expression in GCT is regulated, at least in part, by DNA and histone modifications, and the epigenetic profile of these tumours is characterised by genome-wide demethylation. There are different epigenetic modifications in TG-subtypes that reflect the normal developmental switch in primordial germ cells from an under- to normally methylated genome. The main purpose of this review is to illustrate the findings of recent investigations in the classification of male genital organs, the discoveries in the use of prognostic and diagnostic markers and the epigenetic aberrations mainly affecting the patterns of DNA methylation/histone modifications of genes (especially tumor suppressors) and microRNAs (miRNAs).

Original languageEnglish
Pages (from-to)104654-104663
Number of pages10
Issue number61
Publication statusPublished - Jan 1 2017


  • Biomarkers
  • Epigenetic factors
  • Germ cell neoplasia
  • Seminoma
  • Testicular cancer

ASJC Scopus subject areas

  • Oncology


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