Mixed germ cell-sex cord stromal tumors


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PubMed search: Ovarian gonadoblastoma

Nalini Gupta, M.D.
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Cite this page: Ehdaivand S, Gupta N. Gonadoblastoma. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/ovarytumorgonadoblastoma.html. Accessed May 30th, 2023.
Definition / general
  • First described by Scully in 1953 (Cancer 1953;6:455)
  • Also called dysgenetic gonadoma
  • Mixture of germ cell tumor and sex-cord stromal tumor
  • Usually occurs in individuals with abnormal sexual development and indeterminate gonads; usually gonadal dysgenesis with Y chromosome (i.e. XY gonadal dysgenesis, XO-XY mosaicism, not XX gonadal dysgenesis); 25% risk of neoplasia in these gonads
  • Also present in phenotypically normal women, even during pregnancy, although ovary is never normal
  • Y chromosome material appears to participate in gonadoblastoma tumorigenesis (Am J Clin Pathol 1997;108:197, Birth Defects Res C Embryo Today 2009;87:114)
  • Associated with ataxia-telangiectasia
  • 80% are phenotypic women, 20% are phenotypic men with undescended testicles and female internal secondary organs
  • 50% have coexisting dysgerminoma
  • Excellent prognosis if completely excised; almost never malignant
  • Chromosomal analysis useful to diagnose androgen insensitivity / male pseudohermaphroditism (46,XY) and Turner syndrome (45,XO)

  • Imaging:
    • Imaging studies useful to diagnose intersexuality and identify patients at risk of developing gonadoblastoma
    • Flat abdominal radiograph may reveal gonadal calcification, a classic pathologic finding in gonadoblastoma
  • Gonadal differentiation starts after 5 weeks of gestation and depends on sex chromosome of fetus
  • Errors in this complex multistep process of sexual differentiation may cause dysgenetic gonads
Case reports
  • Pure Gonadoblastoma have excellent prognosis
  • Local excision is adequate treatment if no frankly malignant are present
Gross description
  • 36% bilateral, tumors usually small and may be microscopic
Gross images

AFIP images

Bilateral tumor, with germinoma

With germinoma

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Gonadal dysgenesis

Microscopic (histologic) description
  • Primitive germ cells and sex cord stromal cells surrounded by ovarian-type stroma
  • Nests of dysgerminoma-like germ cells and sex cord derivatives resemble immature Sertoli and granulosa cells
  • Arranged in nests surrounded by ovarian stroma containing Leydig or lutein-type cells
  • Hyalinization and calcification are common
  • May be dysgerminoma if overgrowth of this component (Am J Clin Pathol 1997;108:197)
Microscopic (histologic) images

AFIP images

Nests of tumor

With germinoma

Small sex cord-type cells

Positive stains
Differential diagnosis
  • Incidental finding in ovaries of normal infants / children: associated with follicular cysts, microscopic foci resembling gonadoblastoma or sex cord tumor with annular tubules
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