Germ cell tumor pathophysiology

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Dysgerminoma


Testicular Seminoma

Germinoma

  • On microscopic histopathological analysis, uniform cells that resemble primordial germ cells, consisting of large, round cells with vesicular nuclei and clear or finely granular cytoplasm that is eosinophilic are characteristic findings of germinoma.
  • Pure germinomas are composed of large polygonal undifferentiated cells with abundant cytoplasm arranged in nests separated by bands of connective tissue
  • The histologic appearance of NGGCTs varies depending upon the specific cell types present[2]
  • Infiltrating small lymphocytes are often present and can obscure the diagnosis, especially in small biopsy specimens[2]
  • Genes involved in the pathogenesis of germinoma include gains of 1p, 8p, and 12q and losses of 13q and 18q, duplication of the short arm of chromosome 12, loss of 1p and 6q, alterations in sex chromosomes in children, alterations of the p14 gene, mutations of the c-kit gene, aberrations of CCND2 (12P13), and RB1, and gain-of-function mutations of KIT.
  • The progression to germinoma usually involves the mutations of the KIT/RAS signalling or AKT1/mtor pathways and cyclin/CDK-RB-E2F pathway if CCND2(12P13) and RB1 genes are aberrated

Yolk sac tumors

  • The hypermethylation of the RUNX3 gene promoter and overexpression of GATA-4, a transcription factor has been associated with the development of endodermal sinus tumor.
  • On gross pathology, solid gray-white with a gelatinous, myxoid, or mucoid appearance, necrosis, cystic changes, and hemorrhage are characteristic findings of endodermal sinus tumor.
  • On microscopic histopathological analysis, Schiller-Duval bodies is a characteristic finding of endodermal sinus tumor.

Teratomas

Polyembryoma

Gonadoblastoma

References

  1. 1.0 1.1
  2. 2.0 2.1