| Literature DB >> 29932284 |
Suzanne P MacFarland1, Kelly A Duffy2, Tricia R Bhatti3, Rochelle Bagatell1,4, Naomi J Balamuth1,4, Garrett M Brodeur1,4, Arupa Ganguly5, Peter A Mattei6, Lea F Surrey3, Frank M Balis1,4, Jennifer M Kalish2,4,5.
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.Entities:
Keywords: Beckwith-Wiedemann spectrum; Beckwith-Wiedemann syndrome; Wilms tumor; cancer predisposition; isolated hemihypertrophy; isolated lateralized overgrowth; tumor screening
Mesh：
Year: 2018 PMID： 29932284 PMCID： PMC6107414 DOI： 10.1002/pbc.27296
Source DB: PubMed Journal: Pediatr Blood Cancer ISSN： 1545-5009 Impact factor: 3.167