Skip Navigation LinksHome > May 2013 - Volume 35 - Issue 4 > Unusually Early Presentation of Small-Bowel Adenocarcinoma i...
Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e318282db11
Clinical and Laboratory Observations

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

Wangler, Michael F. MD*; Chavan, Rishikesh MD; Hicks, M. John MD, PhD, DDS‡,§; Nuchtern, Jed G. MD∥,¶; Hegde, Madhuri PhD#; Plon, Sharon E. MD, PhD*,∥; Thompson, Patrick A. MD

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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.

© 2013 Lippincott Williams & Wilkins, Inc.

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