Case Report: Use of Tumor and Germline Y Chromosomal Analysis to Guide Surgical Management in a 46, XX Female Presenting With Gonadoblastoma With Dysgerminoma

Int J Gynecol Pathol. 2017 Sep;36(5):466-470. doi: 10.1097/PGP.0000000000000349.

Abstract

Gonadoblastomas are rare mixed gonadal tumors that are almost always found in individuals with 46, XY karyotype or some other form of Y chromosome mosaicism. It is extremely rare to diagnose gonadoblastoma in phenotypically normal 46, XX females. Herein, we present a 20-year-old 46, XX female diagnosed with gonadoblastoma and dysgerminoma. Use of cytogenetic and molecular analyses to identify the presence of Y chromosome material in peripheral blood, gonadal, and tumor tissue can exclude mosaicism to provide reassurance to undertake conservative surgical management and preserve fertility.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Y / genetics*
  • Dysgerminoma / diagnosis*
  • Dysgerminoma / pathology
  • Female
  • Genetic Testing
  • Gonadoblastoma / diagnosis*
  • Gonadoblastoma / pathology
  • Humans
  • Mosaicism
  • Ovarian Neoplasms / diagnosis*
  • Ovarian Neoplasms / pathology
  • Ovary / pathology
  • Young Adult