Unusually Early Presentation of Small-Bowel Adenocarcinoma in a Patient With Peutz-Jeghers Syndrome

• Type of Material: Article
• Authors: Michael F. Wangler, Baylor College of Medicine; Rishikesh Chavan, Baylor College of Medicine; M. John Hicks, Baylor College of Medicine; Jed.G. Nuchtern, Baylor College of Medicine; Madhuri Hegde, Emory University; Sharon E. Plon, Baylor College of Medicine; Patrick A. Thompson, Baylor College of Medicine
• Language: English
• Date: 2013-05-01
• Publisher: Lippincott, Williams & Wilkins
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: Copyright © 2013 by Lippincott Williams & Wilkins.
• Final Published Version (URL): http://dx.doi.org/10.1097/MPH.0b013e318282db11
• Title of Journal or Parent Work: Journal of Pediatric Hematology/Oncology
• ISSN: 1077-4114
• Volume: 35
• Issue: 4
• Start Page: 323
• End Page: 328
• Grant/Funding Information: RSC is a St. Baldrick’s Foundation Fellow for Childhood Cancer Research.; MFW received support from 1 K08 NS076547-01.; This work was supported by 5R01CA138836 to SEP.
• Keywords: MUTATIONS; Oncology; FREQUENCY; Peutz-Jeghers syndrome; SERIES; KINASE; GIRL; COLON; Science & Technology; SPECTRUM; STK11; lead-point intusussception; cancer surveillance; Hematology; small-bowel adenocarcinoma; Pediatrics; CANCER; Life Sciences & Biomedicine
• Research Categories: Health Sciences, Medicine and Surgery; Health Sciences, Oncology

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.