Resumen
Beckwith?Wiedemann syndrome (BWS) is an overgrowth and cancer predisposition disorder that is associated with increased risk of hepatoblastoma (HB), a liver tumor, and Wilms tumors (WTs), a kidney tumor. Patients with BWS are screened for these tumors during their childhood. In this study, we present 16 cases of BWS with HB, focusing on their molecular diagnosis and clinical phenotype. We obtained liver and matched HB samples from 8 of the 16 cases and tumor-only samples from 2 additional cases. By analyzing the molecular subtypes of these liver samples, we were able to stratify BWS-HB into three distinct groups, providing insight into the oncogenesis of HB. Based on our data, we suggest that organ-specific mosaicism is a major hurdle for genotype?phenotype correlation within BWS.