Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome

Vivek Subbiah, Vicki Huff, Johannes E.A. Wolff, Leena Ketonen, Frederick F. Lang, John Stewart, Lauren Langford, Cynthia E. Herzog

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

Frasier syndrome is characterized by a 46 XY disorder of sex development, nephropathy, and increased risk for gonadoblastoma due to Wilms tumor 1(WT1) mutation in the donor splice site of intron-9, resulting in the splice form +KTS. Germ cell tumors and gonadoblastomas have been reported previously in Frasier syndrome. We present the clinical, radiological, and genetic (WT1 mutation analysis) of a 46 XY phenotypic female with Frasier syndrome with bilateral gonadoblastoma with dysgerminoma who developed pilocytic astrocytoma.

Original languageEnglish (US)
Pages (from-to)1349-1351
Number of pages3
JournalPediatric Blood and Cancer
Volume53
Issue number7
DOIs
StatePublished - Dec 15 2009

Keywords

  • Dysgerminoma
  • Frasier syndrome
  • Gonadoblasoma
  • Intersex disorder
  • Pilocytic astrocytoma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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