Case studies in the diagnosis and management of Peutz-Jeghers syndrome

Douglas Riegert-Johnson, Maegan Roberts, Ferga C. Gleeson, Murli Krishna, Lisa Allyn Boardman

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by melanotic macules, gastrointestinal polyps and increased cancer risks. We discuss several common scenarios encountered in the diagnosis and management of PJS patients. If the diagnosis is unclear, all pathological material should be re-evaluated by an expert gastrointestinal pathologist. The PJS discussion email list-serve (patient managed) and the,, websites are useful resources for patients. Cancer surveillance is accepted as a method to increase survival for PJS patients, thus all PJS patients should be prescribed an individualized surveillance plan based on personal and family history as well as available health care resources while taking into consideration the preferences of the patient. Several recent incremental improvements in PJS care have been made including the use of magnetic resonance enterography (MRE) and double balloon endoscopy (DBE). MRE combines cancer and small intestinal polyp surveillance, which previously had required two or more separate tests. How and when to perform pancreatic cancer surveillance continues to be an unclear area in the management of PJS patients. Endoscopic ultrasound (EUS) is probably the most sensitive investigation for pancreatic cancer detection at an early stage when cure may be possible. However, EUS is limited by variability and false positive results. Female patients with PJS are at risk for two rare cancers that require regular surveillance, adenoma malignum and ovarian sex cord tumors with annular tubules.

Original languageEnglish (US)
Pages (from-to)463-468
Number of pages6
JournalFamilial Cancer
Issue number3
StatePublished - 2011


  • Adenoma malignum
  • Magnetic resonance enterography
  • Pancreatic cancer
  • Peutz-Jeghers syndrome
  • Sex cord tumors

ASJC Scopus subject areas

  • Oncology
  • Genetics
  • Genetics(clinical)
  • Cancer Research


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