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

2009; Wiley; Volume: 53; Issue: 7 Linguagem: Inglês

10.1002/pbc.22152

1545-5017

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

Urological Disorders and Treatments

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. Pediatr Blood Cancer 2009; 53:1349–1351. © 2009 Wiley‐Liss, Inc.