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Peutz-Jeghers syndrome: need for early screening

Kashish Khanna1, Vikram Khanna2, Veereshwar Bhatnagar1

  • 1Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, Delhi, India.

BMJ Case Reports
|December 21, 2018
PubMed

Insights

Peutz-Jeghers syndrome (PJS) can lead to early small bowel cancer. This case highlights a 7-year-old boy with PJS diagnosed with adenocarcinoma, likely the youngest reported instance.

Area of Science:

  • Gastroenterology
  • Oncology
  • Genetics

Background:

  • Peutz-Jeghers syndrome (PJS) is an inherited disorder associated with hamartomatous polyps and increased cancer risk.
  • Small intestinal cancer typically manifests in PJS patients by their third decade of life.

Observation:

  • A 7-year-old boy with PJS presented with severe abdominal pain and melena, indicative of gastrointestinal bleeding.
  • Diagnostic imaging revealed jejunal polyps and intussusception, necessitating surgical intervention.

Findings:

  • Surgical resection of the intussuscepted bowel confirmed well-differentiated stage 2A adenocarcinoma.
  • This represents one of the youngest documented cases of small bowel cancer in a patient with Peutz-Jeghers syndrome.

Implications:

  • Early-onset small bowel cancer in PJS patients requires heightened clinical suspicion and surveillance.
  • This case underscores the importance of genetic counseling and timely management for individuals with PJS.
  • Further research into the early oncogenic mechanisms in PJS may improve patient outcomes.

Keywords:
gastrointestinal surgerygi bleedingpaediatric surgerysmall intestinesmall intestine cancer

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