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Diagnosis of Beckwith–Wiedemann syndrome in children presenting with Wilms tumor |
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| Authors: | Suzanne P. MacFarland Kelly A. Duffy Tricia R. Bhatti Rochelle Bagatell Naomi J. Balamuth Garrett M. Brodeur Arupa Ganguly Peter A. Mattei Lea F. Surrey Frank M. Balis Jennifer M. Kalish |
| Affiliation: | 1. Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania;2. Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania;3. Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania;4. Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania;5. Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania;6. Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| Abstract: | 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. |
| Keywords: | Beckwith– Wiedemann spectrum Beckwith– Wiedemann syndrome cancer predisposition isolated hemihypertrophy isolated lateralized overgrowth tumor screening Wilms tumor |