title: Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndrome.
abstract: Peutz-Jeghers syndrome (PJS) is an autosomal dominant cancer predisposition syndrome characterized by melanotic macules and hamartomatous polyps. Small-bowel surveillance in the pediatric PJS population is not designed to identify small-bowel malignancy, which is thought to arise in adulthood. A 13-year-old boy presented with lead-point intussusception, requiring emergent surgical resection. A mucinous adenocarcinoma was found arising from high-grade dysplasia within a polyp. On the basis of these findings and mucosal pigmentation, he was diagnosed with PJS. DNA sequencing revealed a heterozygous c.921-1G>T STK11 mutation. This case is the earliest onset of small-bowel carcinoma in PJS, an observation relevant to surveillance guidelines.
authors: Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors: Michael F
authors: MF
authors: Wangler
authors: Rishikesh
authors: R
authors: Chavan
authors: M John
authors: MJ
authors: Hicks
authors: Jed G
authors: JG
authors: Nuchtern
authors: Madhuri
authors: M
authors: Hegde
authors: Sharon E
authors: SE
authors: Plon
authors: Patrick A
authors: PA
authors: Thompson
mesh_terms: D002288:Adenocarcinoma, Mucinous / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D000293:Adolescent; D006801:Humans; D007414:Intestinal Neoplasms / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D007421:Intestine, Small / Q000473:pathology* / Q000601:surgery; D007443:Intussusception / Q000473:pathology / Q000601:surgery; D008297:Male; D010580:Peutz-Jeghers Syndrome / Q000150:complications* / Q000473:pathology / Q000601:surgery