Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two-year-old female

Pediatr Blood Cancer. 2019 Aug;66(8):e27788. doi: 10.1002/pbc.27788. Epub 2019 Apr 30.


Growing teratoma syndrome (GTS) is a condition in which mature teratoma with negative tumor markers arises at the site of a treated malignant germ cell tumor. Pathogenic variants in PTEN have been reported to cause autosomal dominant cancer predisposition syndromes and are associated with germ cell tumors. We report the association of a novel heterozygous pathogenic variant in PTEN and very early onset ovarian germ cell tumor complicated by GTS as well as overgrowth syndrome. This marks the youngest reported patient to have developed GTS following treatment of her primary malignant ovarian germ cell tumor.

Keywords: PTEN mutation; growing teratoma syndrome; immature ovarian germ cell tumor; pRB expression; preadolescent.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Female
  • Heterozygote*
  • Humans
  • Mutation*
  • Neoplasms, Germ Cell and Embryonal / etiology
  • Neoplasms, Germ Cell and Embryonal / genetics
  • Neoplasms, Germ Cell and Embryonal / pathology*
  • Ovarian Neoplasms / complications*
  • Ovarian Neoplasms / etiology
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / pathology*
  • PTEN Phosphohydrolase / genetics*
  • Prognosis
  • Syndrome
  • Teratoma / complications*
  • Teratoma / genetics


  • PTEN Phosphohydrolase
  • PTEN protein, human

Supplementary concepts

  • Ovarian Germ Cell Cancer
  • Teratoma, Ovarian