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.
Departments of *Molecular and Human Genetics
†Pediatrics, Section of Hematology Oncology
‡Pathology and Immunology
¶Surgery, Baylor College of Medicine
§Texas Children’s Hospital, Houston, TX
#Department of Human Genetics, Emory University School of Medicine, Atlanta, GA
Supported by 5R01CA138836 to S.E.P. R.S.C. is a St Baldrick’s Foundation Fellow for Childhood Cancer Research. M.F.W. received support from 1 K08 NS076547-01.
M.F.W. and R.C. contributed equally.
The authors declare no conflict of interest.
Reprints: Patrick A. Thompson, MD, 6701 Fannin St, Texas Children’s Cancer Center, Houston, TX 77030 (e-mail: email@example.com).
Received May 29, 2012
Accepted December 12, 2012