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. 2018 Oct;65(10):e27296.
doi: 10.1002/pbc.27296. Epub 2018 Jun 22.

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

Suzanne P MacFarland  1 , Kelly A Duffy  2 , Tricia R Bhatti  3 , Rochelle Bagatell  1   4 , Naomi J Balamuth  1   4 , Garrett M Brodeur  1   4 , Arupa Ganguly  5 , Peter A Mattei  6 , Lea F Surrey  3 , Frank M Balis  1   4 , Jennifer M Kalish  2   4   5
Affiliations

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

Suzanne P MacFarland et al. Pediatr Blood Cancer. 2018 Oct.

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; Wilms tumor; cancer predisposition; isolated hemihypertrophy; isolated lateralized overgrowth; tumor screening.

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Conflict of interest statement

Conflict of Interest Statement

The authors have no relevant conflicts of interest to disclose.

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