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 language | English (US) |
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Pages (from-to) | 1349-1351 |
Number of pages | 3 |
Journal | Pediatric Blood and Cancer |
Volume | 53 |
Issue number | 7 |
DOIs | |
State | Published - Dec 15 2009 |
Keywords
- Dysgerminoma
- Frasier syndrome
- Gonadoblasoma
- Intersex disorder
- Pilocytic astrocytoma
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Hematology
- Oncology