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[Clinical analysis of Peutz-Jeghers syndrome:a report of 6 cases]

Ke Dong1, Bo Li, Ben-hai Li

  • 1Department of General Surgery, West China Hospital, Sichuan University, Chengdu 610041, China. dongke1134@hotmail.com

Zhonghua Wei Chang Wai Ke Za Zhi = Chinese Journal of Gastrointestinal Surgery
|September 17, 2005
PubMed

Insights

Peutz-Jeghers syndrome (PJS) patients often have a family history of cancer and recurrent intestinal polyps. Surgical intervention is the primary treatment, with ongoing surveillance crucial for early detection of gastrointestinal cancers.

Area of Science:

  • Gastroenterology
  • Clinical Genetics
  • Surgical Oncology

Background:

  • Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation.
  • PJS significantly increases the risk of developing various cancers, particularly gastrointestinal malignancies.

Observation:

  • A review of six PJS patients revealed recurrent abdominal pain, intussusception, and bleeding intestinal polyps as primary manifestations.
  • Family history of PJS and cancer was noted in a majority of patients, highlighting the genetic component.
  • Synchronous adenomas and gastric cancer were observed in some patients, underscoring the malignant potential.

Findings:

  • Intussusception and polyp recurrence are common, often necessitating repeated surgical interventions.
  • Polyp resection and intestinal resection were the mainstays of treatment.
  • A strong association between PJS, family history of cancer, and gastrointestinal polyp recurrence was confirmed.

Implications:

  • Surgical intervention is the recommended initial management for PJS.
  • Lifelong surveillance of the gastrointestinal tract and other at-risk organs is essential for early cancer detection in PJS patients.
  • Genetic counseling and screening for family members are critical for early diagnosis and management.
Abstract

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