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Peutz-Jeghers syndrome with small intestinal malignancy and cervical carcinoma

Lian-Jie Li1, Zhi-Qing Wang, Bao-Ping Wu

  • 1Department of Gastroenterology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong Province, China.

World Journal of Gastroenterology
|December 26, 2008
PubMed

Insights

This case report details a 30-year-old woman with Peutz-Jeghers syndrome (PJS) who developed both small intestinal and cervical cancers. This rare dual malignancy presentation in PJS is unprecedented in medical literature.

Area of Science:

  • Oncology
  • Gastroenterology
  • Genetics

Background:

  • Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by hamartomatous polyps in the gastrointestinal tract and increased cancer risk.
  • While PJS is associated with various malignancies, the simultaneous occurrence of small intestinal and cervical cancers is exceptionally rare.

Observation:

  • A 30-year-old woman with clinical features of PJS, but no family history, presented with small intestinal obstruction.
  • Pathological diagnosis confirmed mucinous adenocarcinoma in a small intestinal polyp, indicating canceration.
  • The patient later developed cervical adenosquamous carcinoma six years after initial diagnosis and treatment.

Findings:

  • This case represents the first documented instance of Peutz-Jeghers syndrome associated with both small intestinal and cervical malignancies.
  • The patient exhibited typical PJS features without a known family history, highlighting potential de novo mutations or incomplete penetrance.

Implications:

  • This case underscores the critical need for vigilant, long-term surveillance in PJS patients for multiple cancer types.
  • Further research is warranted to elucidate the specific molecular mechanisms linking PJS to diverse malignancies, including cervical cancer.
  • Highlights the importance of considering PJS in patients with unexplained gastrointestinal polyps and associated cancers, even without a family history.

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