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

Pediatr Blood Cancer. 2009 Dec 15;53(7):1349-51. doi: 10.1002/pbc.22152.

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.

Publication types

  • Case Reports

MeSH terms

  • Astrocytoma / complications
  • Astrocytoma / genetics*
  • Astrocytoma / pathology
  • Astrocytoma / surgery
  • Child
  • Dysgerminoma / genetics*
  • Dysgerminoma / pathology
  • Dysgerminoma / surgery
  • Female
  • Frasier Syndrome / genetics*
  • Genes, Wilms Tumor*
  • Gonadal Dysgenesis, 46,XY / genetics
  • Gonadoblastoma / genetics*
  • Gonadoblastoma / pathology
  • Gonadoblastoma / surgery
  • Hemianopsia / etiology
  • Humans
  • Hypothalamic Neoplasms / complications
  • Hypothalamic Neoplasms / genetics*
  • Hypothalamic Neoplasms / pathology
  • Hypothalamic Neoplasms / surgery
  • Male
  • Neoplasms, Multiple Primary / genetics
  • Neoplasms, Multiple Primary / pathology
  • Neoplasms, Multiple Primary / surgery
  • Neoplastic Syndromes, Hereditary / genetics*
  • Phenotype
  • Point Mutation*
  • Proteinuria / genetics
  • RNA Splice Sites / genetics*
  • Speech Disorders / etiology

Substances

  • RNA Splice Sites