Germ Cell Tumors in Dysgenetic Gonads

Clinics (Sao Paulo). 2019 Nov 11:74:e408. doi: 10.6061/clinics/2019/e408. eCollection 2019.


This review describes the germ cell neoplasms that are malignant and most commonly associated with several types of gonadal dysgenesis. The most common neoplasm is gonadoblastoma, while others including dysgerminomas, yolk-sac tumors and teratomas are rare but can occur. The purpose of this review is to evaluate the incidences of these abnormalities and the circumstances surrounding these specific tumors.According to well-established methods, a PubMed systematic review was performed, to obtain relevant studies published in English and select those with the highest-quality data.Initially, the first search was performed using gonadal dysgenesis as the search term, resulting in 12,887 PubMed papers, published, from 1945 to 2017. A second search using ovarian germ cell tumors as the search term resulted in 10,473 papers, published from 1960 to 2017. Another search was performed in Medline, using germ cell neoplasia as the search term, and this search resulted in 7,560 papers that were published between 2003 to 2016, with 245 new papers assessing gonadoblastomas.The higher incidence of germ cell tumors in gonadal dysgenesis is associated with a chromosomal anomaly that leads to the absence of germ cells in these gonads and, consequently, a higher incidence of neoplasms when these tumors are located inside the abdomen. Several hypotheses suggest that increased incidence of germ cell tumors involves all or part of the Y chromosome or different genes.

Publication types

  • Systematic Review

MeSH terms

  • Female
  • Gonadal Dysgenesis / genetics*
  • Humans
  • Incidence
  • Male
  • Neoplasms, Germ Cell and Embryonal / classification*
  • Neoplasms, Germ Cell and Embryonal / genetics
  • Risk Factors