Peutz-Jeghers syndrome pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]

Overview

Peutz-Jeghers syndrome is transmitted in an autosomal dominant pattern.

Pathophysiology

Genetics

Peutz-Jeghers syndrome is caused by a mutation in STK11 (LKB1) tumor suppressor gene on chromosome 19.[1] It is inherited in an autosomal dominant pattern, which means that anyone who has Peutz-Jeghers syndrome has a 50% chance of passing it onto his/her offspring.

Microscopic Pathology

Peutz-Jeghers syndrome's polyps are non neoplastic hamartomas[2]. On microscopic histopathological analysis, polyps have the following characteristic findings:[3]

  • Frond-like polyp with all three components of mucosa:
  • Muscosal epithelium (melanotic mucosa, goblet cells)
  • Lamina propria
  • Muscularis mucosae

References

  1. JBouquot, Jerry E.; Neville, Brad W.; Damm, Douglas D.; Allen, Carl P. (2008).Oral and Maxillofacial Pathology. Philadelphia: Saunders. p.16.11.ISBN1-4160-3435-8.
  2. Radiopaedia.http://radiopaedia.org/articles/peutz-jeghers-syndrome-2
  3. libre Pathology.http://librepathology.org/wiki/index.php/Peutz-Jeghers_syndrome

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