title: GNAS is not involved in gastrointestinal tumour formation in Peutz-Jeghers syndrome.
abstract: Peutz-Jeghers syndrome (PJS), caused by germ-line mutations in LKB1, is characterized by the development of hamartomatous polyps in the gastrointestinal (GI) tract. McCune Albright syndrome (MAS), caused by somatic activating mutations in GNAS, presents with cutaneous, skeletal, and endocrine manifestations. Recently, hamartomatous GI polyps with histological features similar to those in PJS were observed in MAS patients, suggesting a role for GNAS in the pathogenesis of PJS. This study reports the first somatic GNAS mutation analysis in GI tumours of PJS patients. No mutations were observed, suggesting that GNAS is not involved in the pathogenesis of GI tumours in PJS.
authors: Department of Gastroenterology and Hepatology, Erasmus Medical University Centre, Room L-463, 's Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands.
authors: Susanne E
authors: SE
authors: Korsse
authors: Maikel P
authors: MP
authors: Peppelenbosch
authors: Ron
authors: R
authors: Smits
authors: Wendy
authors: W
authors: van Veelen
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology; D002864:Chromogranins; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D005770:Gastrointestinal Neoplasms / Q000235:genetics* / Q000473:pathology; D006222:Hamartoma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010580:Peutz-Jeghers Syndrome / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D011379:Prognosis
chemical_list: D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs