Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor

被引：31

作者：

MacFarland, Suzanne P. ^{[1
]}

Duffy, Kelly A. ^{[2
]}

Bhatti, Tricia R. ^{[3
]}

Bagatell, Rochelle ^{[1
,4
]}

Balamuth, Naomi J. ^{[1
,4
]}

Brodeur, Garrett M. ^{[1
,4
]}

Ganguly, Arupa ^{[5
]}

Mattei, Peter A. ^{[6
]}

Surrey, Lea F. ^{[3
]}

Balis, Frank M. ^{[1
,4
]}

Kalish, Jennifer M. ^{[2
,4
,5
]}

机构：

[1] Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA

[2] Childrens Hosp Philadelphia, Div Human Genet, CTRB Rm 3028,3501 Civ Ctr Blvd, Philadelphia, PA 19104 USA

[3] Univ Penn, Perelman Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA

[4] Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA

[5] Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA USA

[6] Childrens Hosp Philadelphia, Dept Surg, Philadelphia, PA 19104 USA

来源：

PEDIATRIC BLOOD & CANCER | 2018年 / 65卷 / 10期

基金：

美国国家卫生研究院;

关键词：

Beckwith-Wiedemann spectrum; Beckwith-Wiedemann syndrome; cancer predisposition; isolated hemihypertrophy; isolated lateralized overgrowth; tumor screening; Wilms tumor; ISOLATED HEMIHYPERPLASIA; MOLECULAR DIAGNOSIS; IMPRINTING DEFECTS; CANCER-RISK; PHENOTYPE; HEMIHYPERTROPHY; OVERGROWTH;

D O I：

10.1002/pbc.27296

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Beckwith-Wiedemann syndrome (BWS) is a genetic syndrome associated with overgrowth and cancer predisposition, including predisposition to Wilms tumor (WT). Patients with BWS and BWS spectrum are screened from birth to age 7 years for BWS-associated cancers. However, in some cases a BWS-associated cancer may be the first recognized manifestation of the syndrome. We describe 12 patients diagnosed with BWS after presenting with a WT. We discuss the features of BWS in these patients and hypothesize that earlier detection of BWS by attention to its subtler manifestations could lead to earlier detection of children at risk for associated malignancies.

引用

页数：5

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