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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

Journal of Pediatric Hematology/Oncology: May 2013 - Volume 35 - Issue 4 - p 323–328
doi: 10.1097/MPH.0b013e318282db11
Clinical and Laboratory Observations

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:

Received May 29, 2012

Accepted December 12, 2012

© 2013 Lippincott Williams & Wilkins, Inc.