Publications by authors named "R Weksberg"
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are imprinting disorders caused by genetic or epigenetic aberrations of 15q11.2-q13. Their clinical testing is often multitiered; diagnostic testing begins with methylation-specific multiplex ligation-dependent probe amplification or methylation-sensitive PCR and then proceeds to molecular subtyping to determine the mechanism and recurrence risk.
View Article and Find Full Text PDFWilms tumors are commonly associated with predisposition syndromes. Many of these syndromes are associated with specific phenotypic features and are discussed in the related article from the AACR Pediatric Cancer Working Group. Guidelines for surveillance in this population were published in 2017, but since then several studies have identified new genes with recurrent pathogenic variants associated with increased risk for Wilms tumor development.
View Article and Find Full Text PDFArticle Synopsis
- - Wilms tumors are linked to various predisposition syndromes, many of which involve overgrowth and an increased risk for other cancers like hepatoblastoma.
- - In 2017, surveillance guidelines for patients at risk for Wilms tumors were established, and the AACR Pediatric Cancer Working Group recently updated these guidelines based on new research and risk data.
- - The update aims to inform healthcare professionals—including pediatric oncologists and geneticists—about revised diagnostic criteria and to standardize surveillance recommendations in North America and Australia for patients with relevant syndromes.
Article Synopsis
- Neurofibromatosis type 1 (NF1) and Noonan syndrome, classified under RASopathies, disrupt the RAS-MAPK pathway and present diverse clinical features across multiple body systems.
- Children with RASopathies face a higher risk of developing both benign and malignant tumors compared to the general population, necessitating careful medical management.
- Recent clinical trials have shown that targeted therapies can benefit low-grade and benign tumors, emphasizing the need for collaborative care among pediatric oncologists, neurologists, and other healthcare professionals based on updated guidelines from the 2023 AACR Childhood Cancer Predisposition Workshop.