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Updated: Apr 5, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

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[Peutz-Jeghers Syndrome with Adenomatous Change in a Fifteen-month-old Boy]

Kun Song Lee1, Seung Ho Lee1, Na-Hye Myong2

  • 1Departments of Pediatrics, Dankook University College of Medicine, Cheonan, Korea.

The Korean Journal of Gastroenterology = Taehan Sohwagi Hakhoe Chi
|August 21, 2015
PubMed

Insights

Peutz-Jeghers syndrome (PJS) is a rare genetic disorder with high cancer risk. Early evaluation is crucial, as demonstrated by a case of adenomatous polyp change in a 15-month-old boy with PJS.

Area of Science:

  • Genetics and Molecular Biology
  • Pediatric Gastroenterology
  • Oncology

Background:

  • Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by hamartomatous polyps in the gastrointestinal (GI) tract.
  • PJS significantly increases the lifetime risk of both GI and non-GI cancers.
  • Childhood symptoms often include obstruction, intussusception, and bleeding, typically unrelated to malignancy.

Observation:

  • Gastrointestinal symptoms usually manifest by age 20 in affected individuals.
  • PJS-related intestinal symptoms in children under two are uncommon.
  • No prior reports exist of intestinal carcinoma, adenomatous change, or dysplasia in Korean children with PJS.

Findings:

  • A case of Peutz-Jeghers syndrome with STK11 gene mutation was identified in a 15-month-old Korean boy.
  • This case presented with adenomatous polyp change, a finding not previously reported in such young Korean children with PJS.
  • The early development of adenomatous change highlights potential variations in disease presentation.

Implications:

  • Early and thorough evaluation is essential for children diagnosed with PJS.
  • Identifying precancerous changes like adenomatous polyps at a young age may allow for timely intervention.
  • This case underscores the importance of considering genetic testing and vigilant monitoring in pediatric PJS patients.

Keywords:
ChildIntestinal polypsPeutz-Jeghers syndrome

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