Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT‐IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome |
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| Authors: | Vivek Subbiah MD Vicki Huff PhD Johannes EA Wolff MD PhD Leena Ketonen MD PhD Frederick F Lang Jr MD John Stewart MD Lauren Langford MD Cynthia E Herzog MD |
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| Institution: | 1. Department of Pediatrics, University of Texas M.D. Anderson Cancer Center, Houston, Texas;2. Department of Genetics, University of Texas M.D. Anderson Cancer Center, Houston, Texas;3. Department of Neuroradiology, University of Texas M.D. Anderson Cancer Center, Houston, Texas;4. Department of Neurosurgery, University of Texas M.D. Anderson Cancer Center, Houston, Texas;5. Department of Pathology, University of Texas M.D. Anderson Cancer Center, Houston, Texas |
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| 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. |
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| Keywords: | dysgerminoma Frasier syndrome gonadoblasoma intersex disorder pilocytic astrocytoma |
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