Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6092189 | Gastroenterology | 2015 | 30 Pages |
Abstract
Hamartomatous polyposis syndromes (HPS) account for a small but appreciable proportion of inherited gastrointestinal cancer predisposition syndromes; patients with HPS have an increased risk for colon and extracolonic malignancies. We present a unique case of familial juvenile polyposis syndrome associated with gastrointestinal ganglioneuromas of unknown etiology. The patient was tested for HPS-associated genes, but no mutation was detected. Exome sequencing identified a germline heterozygous mutation in SMAD9 (SMAD9V90M). This mutation was predicted to be an activating mutation. HEK cells transfected to express SMAD9V90M had reduced expression of phosphatase and tensin homolog; this reduction was also observed in a polyp from the patient. We have therefore identified a new susceptibility locus for HPS. Patients with hamartomatous polyposis in the colon associated with ganglioneuromatosis should be referred for genetic assessments.
Keywords
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Gastroenterology
Authors
Joanne Ngeow, Wanfeng Yu, Lamis Yehia, Farshad Niazi, Jinlian Chen, Xuhua Tang, Brandie Heald, Junying Lei, Todd Romigh, Lisa Tucker-Kellogg, Kiat Hon Lim, Haiwei Song, Charis Eng,