Premium
Diagnosis of Beckwith–Wiedemann syndrome in children presenting with Wilms tumor
Author(s) -
MacFarland Suzanne P.,
Duffy Kelly A.,
Bhatti Tricia R.,
Bagatell Rochelle,
Balamuth Naomi J.,
Brodeur Garrett M.,
Ganguly Arupa,
Mattei Peter A.,
Surrey Lea F.,
Balis Frank M.,
Kalish Jennifer M.
Publication year - 2018
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.27296
Subject(s) - beckwith–wiedemann syndrome , medicine , wilms tumour , wilms' tumor , genetic predisposition , cancer , pediatrics , genetics , gene , disease , gene expression , dna methylation , biology
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.