title: Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome.
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.
authors: Department of Pediatrics, University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030, USA.
authors: Vivek
authors: V
authors: Subbiah
authors: Vicki
authors: V
authors: Huff
authors: Johannes E A
authors: JE
authors: Wolff
authors: Leena
authors: L
authors: Ketonen
authors: Frederick F
authors: FF
authors: Lang
authors: John
authors: J
authors: Stewart
authors: Lauren
authors: L
authors: Langford
authors: Cynthia E
authors: CE
authors: Herzog
mesh_terms: D001254:Astrocytoma / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002648:Child; D004407:Dysgerminoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D005260:Female; D052159:Frasier Syndrome / Q000235:genetics*; D016162:Genes, Wilms Tumor; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics; D018238:Gonadoblastoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006423:Hemianopsia / Q000209:etiology; D006801:Humans; D007029:Hypothalamic Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000235:genetics / Q000473:pathology / Q000601:surgery; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D011507:Proteinuria / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics*; D013064:Speech Disorders / Q000209:etiology
chemical_list: D022821:RNA Splice Sites