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

共 50 条

[41] Nested Stromal Epithelial Tumor of the Liver in Beckwith-Wiedemann Syndrome
Malowany, Janet I.
Merritt, Neil H.
Chan, Nancy G.
Ngan, Bo-Yee
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, 2013, 16 (04) : 312 - 317
[42] PRENATAL-DIAGNOSIS IN AUTOSOMAL DOMINANT BECKWITH-WIEDEMANN SYNDROME
VILJOEN, DL
JAQUIRE, Z
WOODS, DL
PRENATAL DIAGNOSIS, 1991, 11 (03) : 167 - 175
[43] Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome
Kim, Hwa Young
Shin, Choong Ho
Lee, Young Ah
Shin, Chang Ho
Kim, Gu-Hwan
Ko, Jung Min
ANNALS OF LABORATORY MEDICINE, 2022, 42 (06) : 668 - +
[44] Management of macroglossia in Beckwith-Wiedemann syndrome
Kittur, M. A.
Padgett, J.
Drake, D.
BRITISH JOURNAL OF ORAL & MAXILLOFACIAL SURGERY, 2013, 51 (01) : E6 - E8
[45] Beckwith-Wiedemann Syndrome With Renal Agenesis
Gokce, Ibrahim
Gocmen, Izlem
Biyikli, Nese Karaaslan
Turan, Serap
Alpay, Harika
TURKISH NEPHROLOGY DIALYSIS AND TRANSPLANTATION JOURNAL, 2007, 16 (04): : 196 - 197
[46] Beckwith-Wiedemann syndrome and virilizing cortical adrenal tumor in a child
Sbragia-Neto, L
Melo, AA
Guerra, G
Marini, SHVD
Baptista, MTM
de Matos, PS
de Oliveira, AG
Bustorff-Silva, JM
JOURNAL OF PEDIATRIC SURGERY, 2000, 35 (08) : 1269 - 1271
[47] Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor Surveillance
Brioude, F.
Lacoste, A.
Netchine, I.
Vazquez, M. -P.
Auber, F.
Audry, G.
Gauthier-Villars, M.
Brugieres, L.
Gicquel, C.
Le Bouc, Y.
Rossignol, S.
HORMONE RESEARCH IN PAEDIATRICS, 2013, 80 (06): : 457 - 465
[48] TWO INFANTS WITH BECKWITH-WIEDEMANN SYNDROME
Ratbi, I
Elalaoui, S. C.
Sefiani, A.
BALKAN JOURNAL OF MEDICAL GENETICS, 2010, 13 (01) : 49 - 53
[49] Genomic imprinting and Beckwith-Wiedemann syndrome
Hatada, I
Mukai, T
HISTOLOGY AND HISTOPATHOLOGY, 2000, 15 (01) : 309 - 312
[50] Treatment of macroglossia in Beckwith-Wiedemann syndrome
Clauser, L
Tieghi, R
Polito, J
JOURNAL OF CRANIOFACIAL SURGERY, 2006, 17 (02) : 369 - 372

← 1 2 3 4 5 →