Peutz-Jeghers syndrome pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Hamid Qazi, MD, BSc [2]

Overview

Peutz-Jeghers syndrome is transmitted in an autosomal dominant pattern. Polyps of Peutz-Jeghers syndrome are usually non-neoplastic hamartomas.

Pathophysiology

Genetics

Pathogenesis

  • It is thought that Peutz-Jeghers syndrome is the result of deletion or partial deletion of STK11 (LBK1) gene, located on chromosome 19p13.3.[1]
  • STK11 protein plays an important role in second messenger signal transduction and is found to regulate cellular proliferation, controls cell polarity, and responds to low energy states.
  • In Mammalian studies, STK11 is shown in the inhibition of AMP-activated protein kinase (AMPK), and signals downstream to inhibit the mammalian target of rapamycin (mTOR).[1]
    • The mTOR pathway is dysregulated in Peutz-Jeghers syndrome.

Pathology

  • Peutz-Jeghers syndrome associated polyps have a unique smooth muscle core that arborizes throughout the polyp.[1]
    • These polyps can only be differentiated from other polyp types by histopathology.

Microscopic Pathology

Polyps of Peutz-Jeghers syndrome are usually 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

PJ polyps

Colonic Polyp.
Source:Libre Pathology[4]


References

  1. 1.0 1.1 1.2 Kopacova, Marcela; Tacheci, Ilja; Rejchrt, Stanislav; Bures, Jan (2009). "Peutz-Jeghers syndrome: Diagnostic and therapeuticapproach". World Journal of Gastroenterology. 15 (43): 5397. doi:10.3748/wjg.15.5397. ISSN 1007-9327.
  2. Pathology of Peutz-Jeghers syndrome. Dr Amir Rezaee and Dr Alexandra Stanislavsky et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/peutz-jeghers-syndrome-2
  3. Buck, J L; Harned, R K; Lichtenstein, J E; Sobin, L H (1992). "Peutz-Jeghers syndrome". RadioGraphics. 12 (2): 365–378. doi:10.1148/radiographics.12.2.1561426. ISSN 0271-5333.
  4. "File:Colon histology with Peutz-Jeghers polyp.jpg - Libre Pathology".