Peutz-jeghers syndrome

Douglas Riegert-Johnson

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by melanotic macules, intestinal polyps, and an increased cancer risk. It is caused by mutations in the serine/threonine kinase 11 gene (LKB1, STK11). About 1 in 100,000 individuals have PJS. 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 peutz-jeghers.com, geneclinics.org 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.

Original languageEnglish (US)
Title of host publicationIntestinal Polyposis Syndromes: Diagnosis and Management
PublisherSpringer International Publishing
Pages117-164
Number of pages48
ISBN (Electronic)9783319281032
ISBN (Print)9783319281018
DOIs
StatePublished - Jan 1 2016

Keywords

  • Hamartoma
  • LKB1
  • Melanotic macule
  • Peutz-Jeghers syndrome
  • STK11

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Riegert-Johnson, D. (2016). Peutz-jeghers syndrome. In Intestinal Polyposis Syndromes: Diagnosis and Management (pp. 117-164). Springer International Publishing. https://doi.org/10.1007/978-3-319-28103-2_9