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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
Summary
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.
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