Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis.

We present the case of a young adult harboring this recurrent deletion, in a context of intellectual disability, ventricular septal defect and severe juvenile polyposis syndrome diagnosed at the age of 25 years, requiring a surgical preventive colectomy. She developed a gastric adenocarcinoma from which she died at the age of 32. We hypothesize that with the current available pangenomic CNV arrays, the diagnosis of 10q22.3q23.1 deletion is often made several years before the onset of the digestive phenotype, which could explain the absence of reports for juvenile polyps. This observation highlights the importance of an active digestive surveillance of patients with 10q22.3q23.1 deletion.
PMID: 31561016 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - September 23, 2019 Category: Genetics & Stem Cells Authors: Lecoquierre F, Cassinari K, Chambon P, Nicolas G, Malsa S, Marlin R, Assouline Y, Fléjou JF, Frebourg T, Houdayer C, Bera O, Baert-Desurmont S Tags: Eur J Med Genet Source Type: research