Extragonadal germ cell tumors: Not just a matter of location. A review about clinical, molecular and pathological features

Cancer Med. 2019 Nov;8(16):6832-6840. doi: 10.1002/cam4.2195. Epub 2019 Sep 30.

Abstract

Extragonadal germ cell tumors (EGGCTs) are uncommon neoplasms, which arise in anatomical locations other than gonads. The pathogenesis of these neoplasms is still poorly understood and it is a matter of debate if they really represent extragondal primary neoplasms or rather extragondal metastasis from occult gonadal neoplasms. The actual observations suggest that EGGCTs represent a unique entity, so their biology and behavior are substantially different from gonadal counterparts. The diagnosis of EGGCTs is often challenging, and differential diagnosis is particularly wide. Nevertheless, a correct diagnosis is essential for the correct management of the patient. We summarize the state of art about EGGCTs, with particular emphasis on diagnosis and prognosis.

Keywords: SALL4; SOX2; choriocarcinoma; chromosome 12p; embryonal carcinoma; extragonadal germ cell tumors; seminoma; teratoma; yolk sac tumor.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biomarkers, Tumor / blood
  • Humans
  • Neoplasms, Germ Cell and Embryonal* / epidemiology
  • Neoplasms, Germ Cell and Embryonal* / metabolism
  • Neoplasms, Germ Cell and Embryonal* / pathology
  • Neoplasms, Germ Cell and Embryonal* / therapy
  • Prognosis

Substances

  • Biomarkers, Tumor