Concurrent Hepatoblastoma and Wilms Tumor Leading to Diagnosis of Beckwith-Wiedemann Syndrome

Abstract

Beckwith-Wiedemann syndrome (BWS) is an epigenetic overgrowth disorder and cancer predisposition syndrome caused by imprinting defects of chromosome 11p15.5-11p15.4. BWS should be considered in children with atypical presentations of embryonal tumors regardless of clinical phenotype. Risk of malignancy correlates with specific molecular subgroups of BWS making molecular subclassification important for appropriate cancer screening. We report the first case of concurrent embryonal tumors in a phenotypically normal child, leading to the diagnosis of BWS with paternal uniparental disomy and describe the molecular classification of BWS as it relates to malignancy risk, along with approach to management.

Methylation of NRIP3 Is a Synthetic Lethal Marker for Combined PI3K and ATR/ATM Inhibitors in Colorectal Cancer

“…NR-interacting protein 3 (NRIP3) is a novel transcriptional coregulator of NR, which is located on chromosome 11p15.4, a fragile site associated with cancer. A recent study conducted by Wolfe et al ( 11 ) reported that defects of this region were related to embryonal tumors. However, the precise regulatory mechanisms and expression patterns of NRIP3 in CRC remain elusive.…”

Overgrowth syndromes, diagnosis and management

“…This assertion is rooted in well documented two-hit models, wherein the occurrence of genetic mutations in critical genes manifests as the cornerstone of tumorigenesis [12]. Resultant tumors predominantly manifest as blastoma types, encompassing pleuropulmonary blastomas, hepatoblastomas, and nephroblastomas (Wilms tumor) [13,14 ▪ ,15]. Furthermore, many of these syndromes are characterized by the presence of vascular malformations, hyperinsulinism, and developmental delays.…”