Gonadoblastoma

Case report of two young patients with isochromosome 12p found in the dysgerminoma overgrowth component in one case

Yi Che Changchien, Irén Haltrich, Tamás Micsik, Eszter Kiss, László Fónyad, Gergo Papp, Z. Sápi

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Gonadoblastomas are unusual neoplasias that frequently appear in the dysgenetic gonads of women with chromosome Y anomaly. We present two cases of gonadoblastoma associated with complete gonadal dysgenesis and Turner syndrome, respectively, with dysgerminoma overgrowth found in one case. We were interested in the DNA ploidy, the presence of Y chromosome DNA sequence and the status of chromosome 12p arm among the tumor cells. We performed cytophotometry to analyze the DNA content and fluorescence in situ hybridization (FISH) to identify the Y chromosome and the isochromosome 12p within the tumor cells. The cytophotometric result showed diploid DNA content in gonadoblastoma, whereas dysgerminoma revealed aneuploid DNA. The FISH result revealed Y chromosome DNA sequence within gonadoblastoma and dysgerminoma. Isochromosome 12p was identified in dysgerminoma, but not in gonadoblastoma. We conclude that gonadoblastoma and dysgerminoma have a strong association with the Y chromosome, and dysgerminoma overgrowth is due to further chromosomal aberrations, such as isochromosome 12p. Histological, immunohistocheimcal and molecular studies should render the correct diagnosis. Identifying dysgerminoma overgrowth is crucial since it is associated with adverse prognosis and requires additional therapy.

Original languageEnglish
Pages (from-to)628-632
Number of pages5
JournalPathology Research and Practice
Volume208
Issue number10
DOIs
Publication statusPublished - Oct 15 2012

Fingerprint

Gonadoblastoma
Dysgerminoma
Isochromosomes
Y Chromosome
DNA
Fluorescence In Situ Hybridization
Gonadal Dysgenesis
Cytophotometry
Neoplasms
Turner Syndrome
Ploidies
Gonads
Aneuploidy
Diploidy
Chromosome Aberrations
Chromosomes

Keywords

  • Dysgerminoma
  • Gonadoblastoma
  • Isochromosome 12p
  • OCT4
  • Ploidy

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Cell Biology

Cite this

Gonadoblastoma : Case report of two young patients with isochromosome 12p found in the dysgerminoma overgrowth component in one case. / Changchien, Yi Che; Haltrich, Irén; Micsik, Tamás; Kiss, Eszter; Fónyad, László; Papp, Gergo; Sápi, Z.

In: Pathology Research and Practice, Vol. 208, No. 10, 15.10.2012, p. 628-632.

Research output: Contribution to journalArticle

Changchien, Yi Che ; Haltrich, Irén ; Micsik, Tamás ; Kiss, Eszter ; Fónyad, László ; Papp, Gergo ; Sápi, Z. / Gonadoblastoma : Case report of two young patients with isochromosome 12p found in the dysgerminoma overgrowth component in one case. In: Pathology Research and Practice. 2012 ; Vol. 208, No. 10. pp. 628-632.
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