Peutz-Jeghers syndrome pathophysiology: Difference between revisions

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Latest revision as of 15:16, 21 December 2017

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

Peutz-Jeghers Polyp Histology Source: By Nephron (Own work), via Wikimedia Commons

Peutz-Jeghers Polyp Histology Source:Libre Pathology

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

Template:WH Template:WS

[KopacovaTacheci2009-1] 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.

[BuckHarned1992-2] 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

[1]

[2]

[3]

@@ Line 1: / Line 1: @@
 __NOTOC__
 {{Peutz-Jeghers syndrome}}
-{{CMG}} {{AE}} {{MJK}}
+{{CMG}}; {{AE}} {{HQ}}
 ==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==
+===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===
-*Peutz-Jeghers syndrome is inherited in an [[autosomal dominant]] pattern.
+*Peutz-Jeghers syndrome is [[inherited]] in an [[autosomal dominant]] pattern.
-*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>
+==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 ==
 {{reflist|2}}
-{{Phakomatoses}}
-{{Digestive system neoplasia}}
-[[Category:Dental disorders]]
-[[Category:Gastroenterology]]
-[[Category:Genetic disorders]]
-[[Category:Syndromes]]
-[[Category:Needs content]]
-[[Category:Disease]]
 {{WH}}
 {{WS}}
+[[Category:Gastroenterology]]
+[[Category:Surgery]]
+[[Category:Oncology]]
+[[Category:Disease]]
+[[Category:Pediatrics]]
+[[Category:Up-To-Date]]