Peutz-Jeghers syndrome pathophysiology: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
No edit summary |
||
| Line 14: | Line 14: | ||
** The [[Mammalian target of rapamycin|mTOR pathway]] is dysregulated in Peutz-Jeghers syndrome. | ** The [[Mammalian target of rapamycin|mTOR pathway]] is dysregulated in Peutz-Jeghers syndrome. | ||
* | * Pathogenesis of mucutaneous [[pigmentation]] ([[Macule|macules]]) | ||
**Caused by pigment-laden [[Macrophage|macrophages]] in the dermis. | **Caused by [[pigment]]-laden [[Macrophage|macrophages]] in the [[dermis]]. | ||
===Genetics=== | ===Genetics=== | ||
| Line 29: | Line 29: | ||
==Gross Pathology== | ==Gross Pathology== | ||
*Peutz-Jeghers syndrome associated [[Polyp|polyps]] have a unique smooth muscle core that arborizes throughout the [[polyp]].<ref name="KopacovaTacheci2009">{{cite journal|last1=Kopacova|first1=Marcela|last2=Tacheci|first2=Ilja|last3=Rejchrt|first3=Stanislav|last4=Bures|first4=Jan|title=Peutz-Jeghers syndrome: Diagnostic and therapeuticapproach|journal=World Journal of Gastroenterology|volume=15|issue=43|year=2009|pages=5397|issn=1007-9327|doi=10.3748/wjg.15.5397}}</ref> | *On gorss pathology, Peutz-Jeghers syndrome associated [[Polyp|polyps]] have a unique [[smooth muscle]] core that arborizes throughout the [[polyp]].<ref name="KopacovaTacheci2009">{{cite journal|last1=Kopacova|first1=Marcela|last2=Tacheci|first2=Ilja|last3=Rejchrt|first3=Stanislav|last4=Bures|first4=Jan|title=Peutz-Jeghers syndrome: Diagnostic and therapeuticapproach|journal=World Journal of Gastroenterology|volume=15|issue=43|year=2009|pages=5397|issn=1007-9327|doi=10.3748/wjg.15.5397}}</ref> | ||
**These [[Polyp|polyps]] can only be differentiated from other [[polyp]] types by [[histopathology]]. | **These [[Polyp|polyps]] can only be differentiated from other [[polyp]] types by [[histopathology]]. | ||
==Microscopic Pathology== | ==Microscopic Pathology== | ||
[[Polyp|Polyps]] of Peutz-Jeghers syndrome are usually non-neoplastic [[hamartomas]].<ref>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</ref> On microscopic histopathological analysis, [[Polyp|polyps]] have the following characteristic findings:<ref name="BuckHarned1992">{{cite journal|last1=Buck|first1=J L|last2=Harned|first2=R K|last3=Lichtenstein|first3=J E|last4=Sobin|first4=L H|title=Peutz-Jeghers syndrome.|journal=RadioGraphics|volume=12|issue=2|year=1992|pages=365–378|issn=0271-5333|doi=10.1148/radiographics.12.2.1561426}}</ref> | * [[Polyp|Polyps]] of Peutz-Jeghers syndrome are usually non-neoplastic [[hamartomas]].<ref>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</ref> | ||
* On microscopic histopathological analysis, [[Polyp|polyps]] have the following characteristic findings:<ref name="BuckHarned1992">{{cite journal|last1=Buck|first1=J L|last2=Harned|first2=R K|last3=Lichtenstein|first3=J E|last4=Sobin|first4=L H|title=Peutz-Jeghers syndrome.|journal=RadioGraphics|volume=12|issue=2|year=1992|pages=365–378|issn=0271-5333|doi=10.1148/radiographics.12.2.1561426}}</ref> | |||
*Frond-like [[polyp]] with all three components of mucosa: | *Frond-like [[polyp]] with all three components of mucosa: | ||
**Muscosal epithelium (melanotic mucosa, goblet cells) | **Muscosal epithelium (melanotic mucosa, goblet cells) | ||
Revision as of 14:41, 21 December 2017
|
Peutz-Jeghers syndrome Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Peutz-Jeghers syndrome pathophysiology On the Web |
|
American Roentgen Ray Society Images of Peutz-Jeghers syndrome pathophysiology |
|
Risk calculators and risk factors for Peutz-Jeghers syndrome pathophysiology |
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]
- 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
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.[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
- ↑ 1.0 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.
- ↑ 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
- ↑ 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.