Peutz-Jeghers syndrome pathophysiology: Difference between revisions

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{{Peutz-Jeghers syndrome}}
{{Peutz-Jeghers syndrome}}
{{CMG}} {{AE}} {{MJK}}
{{CMG}}; {{AE}} {{HQ}}


==Overview==
==Overview==
Peutz-Jeghers syndrome is transmitted in an [[autosomal dominant]] pattern.
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 (genetics)|deletion]] or [[Deletion (genetics)|partial deletion]] of [[STK11]] (LBK1) gene, located on [[chromosome]] 19p13.3. Mucutaneous [[pigmentation]] ([[macules]]) are caused by [[pigment]]-laden [[macrophages]] in the [[dermis]].  


==Pathophysiology==
==Pathophysiology==
===Pathogenesis===
*It is thought that Peutz-Jeghers syndrome is the result of [[Deletion (genetics)|deletion]] or [[Deletion (genetics)|partial deletion]] of [[STK11]] (LBK1) gene, located on [[chromosome]] 19p13.3.<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><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>
*[[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 [[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]].
===Genetics===
===Genetics===
Peutz-Jeghers syndrome is caused by a mutation in ''[[STK11]]'' (''LKB1'') tumor suppressor gene on [[Chromosome 19 (human)|chromosome 19]].<ref>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.</ref> 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.
*Peutz-Jeghers syndrome is [[inherited]] in an [[autosomal dominant]] pattern.
 
==Associated Conditions==
Conditions associated with Peutz-Jeghers syndrome include:
*[[Breast Cancer]]
*[[Colorectal cancer|Colon Cancer]]
*[[Pancreatic cancer]]
*[[Ovarian cancer]]
*[[Cervical cancer]]
*[[Testicular cancer]]


===Microscopic Pathology===
==Gross Pathology==
Peutz-Jeghers syndrome's [[polyps]] are non neoplastic [[hamartomas]]<ref name="radiopaedia">Radiopaedia.http://radiopaedia.org/articles/peutz-jeghers-syndrome-2</ref>. On microscopic histopathological analysis, polyps have the following characteristic findings:<ref name="librepathology">libre Pathology.http://librepathology.org/wiki/index.php/Peutz-Jeghers_syndrome</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>
*Frond-like polyp with all three components of mucosa:
**These [[Polyp|polyps]] can only be differentiated from other [[polyp]] types by [[histopathology]].
:*Muscosal epithelium (melanotic mucosa, goblet cells)
 
:*Lamina propria
==Microscopic Pathology==
:*Muscularis mucosae
* [[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]]:
**Muscosal [[epithelium]] (melanotic [[mucosa]], [[goblet cells]])
**[[Lamina propria]]
**[[Muscularis mucosae]]
 
[[File:Peutz-Jeghers syndrome polyp .jpg|none|thumb|260x260px|Peutz-Jeghers Polyp Histology [https://upload.wikimedia.org/wikipedia/commons/c/c6/Peutz-Jeghers_syndrome_polyp.jpg Source: By Nephron (Own work), via Wikimedia Commons]]]
[[File:Colon histology with Peutz-Jeghers polyp.jpg|200x200px|thumb|Peutz-Jeghers Polyp Histology [https://www.wikidoc.org/images/0/03/Colon_histology_with_Peutz-Jeghers_polyp.jpg Source:Libre Pathology]]]


== References ==
== References ==
{{reflist|2}}
{{reflist|2}}
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Latest revision as of 15:16, 21 December 2017

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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

Genetics

Associated Conditions

Conditions associated with Peutz-Jeghers syndrome include:

Gross Pathology

Microscopic Pathology

  • Polyps of Peutz-Jeghers syndrome are usually non-neoplastic hamartomas.[3]
  • On microscopic histopathological analysis, polyps have the following characteristic findings:[2]
Peutz-Jeghers Polyp Histology Source: By Nephron (Own work), via Wikimedia Commons
Peutz-Jeghers Polyp Histology Source:Libre Pathology

References

  1. 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. 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.
  3. 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

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