Bilateral Gonadoblastoma With Dysgerminoma and Pilocytic Astrocytoma With WT1 GT-IVS9 Mutation: A 46 XY Phenotypic Female With Frasier Syndrome

被引：14

作者：

Subbiah, Vivek ^{[1
]}

Huff, Vicki ^{[2
]}

Wolff, Johannes E. A. ^{[1
]}

Ketonen, Leena ^{[3
]}

Lang, Frederick F., Jr. ^{[4
]}

Stewart, John ^{[5
]}

Langford, Lauren ^{[5
]}

Herzog, Cynthia E. ^{[1
]}

机构：

[1] Univ Texas MD Anderson Canc Ctr, Dept Pediat, Houston, TX 77030 USA

[2] Univ Texas MD Anderson Canc Ctr, Dept Genet, Houston, TX 77030 USA

[3] Univ Texas MD Anderson Canc Ctr, Dept Neuroradiol, Houston, TX 77030 USA

[4] Univ Texas MD Anderson Canc Ctr, Dept Neurosurg, Houston, TX 77030 USA

[5] Univ Texas MD Anderson Canc Ctr, Dept Pathol, Houston, TX 77030 USA

来源：

PEDIATRIC BLOOD & CANCER | 2009年 / 53卷 / 07期

关键词：

dysgerminoma; Frasier syndrome; gonadoblasoma; intersex disorder; pilocytic astrocytoma; SPLICE-SITE MUTATIONS;

D O I：

10.1002/pbc.22152

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Frasier syndrome is characterized by a 46 XY disorder of sex development, nephropathy, and increased risk for gonadoblastoma Clue 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. (C) 2009 Wiley-Liss, Inc.

引用

页码：1349 / 1351

页数：3