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

被引：13

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

共 24 条

[1] Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation
Kitsiou-Tzeli, Sophia
Deligiorgi, Maria
Malaktari-Skarantavou, Sophia
Vlachopoulos, Charalampos
Megremis, Spyridon
Fylaktou, Irene
Traeger-Synodinos, Joanne
Kanaka-Gantenbein, Christina
Stefanadis, Christodoulos
Kanavakis, Emmanuel
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, 2012, 11 (03): : 361 - 367
[2] Frasier syndrome in a patient with 46XY testicular dysgenesis, nephrotic syndrome of the infancy and a IVS9+5G > A mutation in the WT1 gene
Costanzo, M.
Gil, S.
Balestracci, A.
Saraco, N.
Marino, R.
Rivarola, M.
Caletti, M.
Belgorosky, A.
HORMONE RESEARCH, 2008, 70 : 19 - 19
[3] 46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma
Du, Xue
Zhang, Xuhong
Li, Yongmei
Han, Yukun
EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2014, 8 (04) : 1102 - 1104
[4] Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation
Sophia Kitsiou-Tzeli
Maria Deligiorgi
Sophia Malaktari-Skarantavou
Charalampos Vlachopoulos
Spyridon Megremis
Irene Fylaktou
Joanne Traeger-Synodinos
Christina Kanaka-Gantenbein
Christodoulos Stefanadis
Emmanuel Kanavakis
Hormones, 2012, 11 : 361 - 367
[5] A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation
Hersmus, Remko
van der Zwan, Yvonne G.
Stoop, Hans
Bernard, Pascal
Sreenivasan, Rajini
Oosterhuis, Wolter
Brueggenwirth, Hennie T.
de Boer, Suzan
White, Stefan
Wolffenbuttel, Katja P.
Alders, Marielle
McElreavy, Kenneth
Drop, Stenvert L. S.
Harley, Vincent R.
Looijenga, Leendert H. J.
PLOS ONE, 2012, 7 (07):
[6] A child with isolated nephrotic syndrome and WT1 mutation presenting as a 46, XY phenotypic male
Yang, Yonghui
Feng, Dongning
Huang, Jun
Nie, Xiaojing
Yu, Zihua
EUROPEAN JOURNAL OF PEDIATRICS, 2013, 172 (01) : 127 - 129
[7] A child with isolated nephrotic syndrome and WT1 mutation presenting as a 46, XY phenotypic male
Yonghui Yang
Dongning Feng
Jun Huang
Xiaojing Nie
Zihua Yu
European Journal of Pediatrics, 2013, 172 : 127 - 129
[8] Congenital diaphragmatic eventration with pulmonary dysplasia in Frasier syndrome due to a WT1 mutation of c.1432+5(IVS9)G>A
Zhang, Bo
Ding, Ying
Ren, Xianqing
Song, Chundong
Zhang, Xia
Wang, Fei
Yang, Xiaoqing
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2022, 65 (12)
[9] A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review
Lavi, Eran
Zighan, Mahmud
Abu Libdeh, Abdulsalam
Klopstock, Tehila
Weinberg-Shukron, Ariella
Renbaum, Pinchas
Levy-Lahad, Ephrat
Zangen, David
PEDIATRIC ENDOCRINOLOGY REVIEWS PER, 2020, 17 (04) : 302 - 307
[10] A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9
Fujita, S.
Sugimoto, K.
Miyazawa, T.
Yanagida, H.
Tabata, N.
Okada, M.
Takemura, T.
CLINICAL NEPHROLOGY, 2010, 73 (06) : 487 - 491

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