| Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. | |
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MedLine Citation:
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PMID: 19653292 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Vivek Subbiah; Vicki Huff; Johannes E A Wolff; Leena Ketonen; Frederick F Lang; John Stewart; Lauren Langford; Cynthia E Herzog |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric blood & cancer Volume: 53 ISSN: 1545-5017 ISO Abbreviation: Pediatr Blood Cancer Publication Date: 2009 Dec |
Date Detail:
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Created Date: 2009-10-19 Completed Date: 2009-11-17 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101186624 Medline TA: Pediatr Blood Cancer Country: United States |
Other Details:
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Languages: eng Pagination: 1349-51 Citation Subset: IM |
Copyright Information:
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(c) 2009 Wiley-Liss, Inc. |
Affiliation:
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Department of Pediatrics, University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Astrocytoma
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complications,
genetics*,
pathology,
surgery Child Dysgerminoma / genetics*, pathology, surgery Female Frasier Syndrome / genetics* Genes, Wilms Tumor* Gonadal Dysgenesis, 46,XY / genetics Gonadoblastoma / genetics*, pathology, surgery Hemianopsia / etiology Humans Hypothalamic Neoplasms / complications, genetics*, pathology, surgery Male Neoplasms, Multiple Primary / genetics, pathology, surgery Neoplastic Syndromes, Hereditary / genetics* Phenotype Point Mutation* Proteinuria / genetics RNA Splice Sites / genetics* Speech Disorders / etiology |
| Chemical | |
Reg. No./Substance:
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0/RNA Splice Sites |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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