Co-occurrence of Beckwith–Wiedemann Syndrome and colorectal cancer in a young woman

Beckwith-Wiedemann Spectrum (BWSp) is a disorder predisposing to tumors of embryonic origin that arise during childhood. Little is known concerning the tumor risk and histotype prevalence in adult BWSp patients. However, several studies report cases of co-occurrence of BWSp and tumors in early adulthood, suggesting that the cancer risk in BWSp could be relevant also later than childhood. Here, we report for the first time a case of co-occurrence of BWSp and early-onset colorectal cancer (EO-CRC). The results disclosed genetic and epigenetic molecular lesions of the patient at both somatic and germline levels, providing support to the hypothesis that epigenetic changes contribute to cancer initiation in tissues where a genetic insult is already present, acting in a cooperative manner to stimulate tumorigenesis. DNA samples extracted from peripheral blood were subjected to methylation profile analysis using Infinium MethylationEPIC 850K Bead Chip and pyrosequencing. 8 Controls from the same batch were downloaded from GSE195873 (GSM5855510 to GSM5855517). The GSM is also reported as colname in the Matrix_processed_blood file.