Cancer Risk and Incidence in Beckwith-Wiedemann Syndrome
Lay Summary: Beckwith-Wiedemann Syndrome (BWS) is the most common cancer predisposition and growth disorder that leads to cancer in children. Children with BWS can develop hepatoblastoma (liver cancer) and/or Wilms tumor (kidney cancer). The clinical definition of BWS has recently been revised to include children with subtle features. The cancer risk for children with BWS based on this new definition is unclear. In order to develop better cancer screening guidelines, this research focuses on understanding what the risk for cancer is in patients with BWS and whether the incidence of specific clinical feature(s) increases that risk. Additionally, this work will evaluate current cancer screening to determine if screening is effective at diagnosing cancer at earlier stages and leads to better outcomes for these children. This study will be performed using the BWS Registry developed at Children’s Hospital of Philadelphia and then will be extended to create a National BWS Research Network including other children’s hospitals across the United States.
Project Update 2023: Using the only active BWS Registry, we assessed overall cancer risk and relative risk for each clinical feature seen in BWSp. We also demonstrated that the comprehensive cancer screening for all genetic and epigenetic genetic types of BWSp is recommended. The next stage of this project is to organize data from BWSp patients across the United States via input from multiple institutions. We are creating the National BWS Research Network, with additional pediatric centers beyond Children’s Hospital of Philadelphia, to allow uniform input of clinical and molecular data from each center and initiate a collaborative network to assess cancer risk and efficacy of screening for BWSp. Data collected from this proposal represents the first new data in over two decades from a novel cohort developed in the United States and will be used to revise cancer screening and management guidelines to improve care for children with BWSp.
