Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndrome

J Pediatr Hematol Oncol. 2013 May;35(4):323-8. doi: 10.1097/MPH.0b013e318282db11.

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adenocarcinoma, Mucinous / etiology*
  • Adenocarcinoma, Mucinous / pathology
  • Adenocarcinoma, Mucinous / surgery
  • Adolescent
  • Humans
  • Intestinal Neoplasms / etiology*
  • Intestinal Neoplasms / pathology
  • Intestinal Neoplasms / surgery
  • Intestine, Small / pathology*
  • Intestine, Small / surgery
  • Intussusception / pathology
  • Intussusception / surgery
  • Male
  • Peutz-Jeghers Syndrome / complications*
  • Peutz-Jeghers Syndrome / pathology
  • Peutz-Jeghers Syndrome / surgery