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. It is thought that Peutz-Jeghers syndrome is the result of deletion or partial deletion of STK11 (LBK1) gene, located on chromosome 19p13.3. Mucutaneous pigmentation (macules) are caused by pigment-laden macrophages in the dermis.
Pathophysiology
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][2]
- 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).
- The mTOR pathway is dysregulated in Peutz-Jeghers syndrome.
- Pathogenesis of mucutaneous pigmentation (macules)
- Caused by pigment-laden macrophages in the dermis.
Genetics
- Peutz-Jeghers syndrome is inherited in an autosomal dominant pattern.
Associated Conditions
Conditions associated with Peutz-Jeghers syndrome include:
Gross Pathology
- On gorss 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.[3]
- On microscopic histopathological analysis, polyps have the following characteristic findings:[2]
- Frond-like polyp with all three components of mucosa:
- Muscosal epithelium (melanotic mucosa, goblet cells)
- Lamina propria
- Muscularis mucosae
References
- ↑ 1.0 1.1 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.
- ↑ 2.0 2.1 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.
- ↑ 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