Colonic Adenocarcinoma in a Patient with Velo Cardio Facial Syndrome (VCFS) and 22q11.2 Microdeletion

Abstract

Colonic Adenocarcinoma in a Patient with Velo Cardio Facial Syndrome (VCFS) and 22q11.2 Microdeletion Colorectal cancer (CRC) is one of the most common cancers and second most common cause of cancer related mortality. Chromosomal instability and microsatellite instability have long been considered as major factors in the etiology of colon cancer. Chromosome 22q losses have been reported both in primary and metastatic CRC. Chromosome 22q11.2 microdeletion syndrome is an umbrella term that encompasses various phenotypes, and is the most common microdeletion syndrome in humans. We report an uncommon association of colon cancer in a patient with VCFS and 22q11.2 microdeletion. While this finding may be coincidental, it is important to further evaluate patients with CRC and 22q11.2 microdeletion to assess if this association is more frequent than has been reported.