Proteus syndrome: Difference between revisions
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==[[Proteus syndromeclassification|Classification]]== | ==[[Proteus syndromeclassification|Classification]]== | ||
* Proteus syndrome is one of the syndromes which falls under [[PTEN (gene)|PTEN]] [[hamartoma]] [[tumor]] syndromes (PHTS). PHTS are due to [[Germline mutation|germline mutations]] in [[PTEN (gene)|PTEN]] gene. | * Proteus syndrome is one of the syndromes which falls under [[PTEN (gene)|PTEN]] [[hamartoma]] [[tumor]] syndromes (PHTS). PHTS are due to [[Germline mutation|germline mutations]] in [[PTEN (gene)|PTEN]] gene. | ||
* PTEN hamartoma tumor syndromes (PHTS) which include the following: | * PTEN hamartoma tumor syndromes (PHTS) which include the following: | ||
** Proteus syndrome | ** Proteus syndrome | ||
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==[[Proteus syndromepathophysiology|Pathophysiology]]== | ==[[Proteus syndromepathophysiology|Pathophysiology]]== | ||
*<nowiki/><nowiki/>[[Genes]] involved in the [[pathogenesis]] of proteus syndrome include:<nowiki/><nowiki/> [[Mutations]] in the [[PTEN gene]] leads to [[oncogenesis]] | *<nowiki/><nowiki/>[[Genes]] involved in the [[pathogenesis]] of proteus syndrome include:<nowiki/><nowiki/> [[Mutations]] in the [[PTEN gene]] leads to [[oncogenesis]] | ||
*[[Phosphatase]] and tensin homolog (''[[PTEN (gene)|PTEN]]'') [[gene]] plays an important r<nowiki/><nowiki/>ole in the following: | *[[Phosphatase]] and tensin homolog (''[[PTEN (gene)|PTEN]]'') [[gene]] plays an important r<nowiki/><nowiki/>ole in the following: | ||
**<nowiki/> [[Phosphoinositide 3-kinase|Phosphoinositide]]-3-[[kinase]] ([[PI3K]])-[[AKT]] pathway and | **<nowiki/> [[Phosphoinositide 3-kinase|Phosphoinositide]]-3-[[kinase]] ([[PI3K]])-[[AKT]] pathway and | ||
**[[Rapamycin]] ([[mTOR]]) [[Signaling pathway|signaling pathways]] | **[[Rapamycin]] ([[mTOR]]) [[Signaling pathway|signaling pathways]] | ||
Revision as of 14:08, 29 March 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Synonyms and keywords:PS
Overview
Proteus syndrome is an exceedingly rare disorder which falls under the category of hamartomatous disorder. Proteus syndrome is a very complex disorder which involves multiple organ systems in the body.
Historical Perspective
Discovery
- Proteus syndrome was first discovered by Frederick Treves, a British surgeon, in 1884.
- Frederick Treves showed the proteus syndrome on Joseph Merrick, who used to be called as the famous Elephant Man, to the Pathological Society of London.
Classification
- Proteus syndrome is one of the syndromes which falls under PTEN hamartoma tumor syndromes (PHTS). PHTS are due to germline mutations in PTEN gene.
- PTEN hamartoma tumor syndromes (PHTS) which include the following:
Pathophysiology
- Genes involved in the pathogenesis of proteus syndrome include: Mutations in the PTEN gene leads to oncogenesis
- Phosphatase and tensin homolog (PTEN) gene plays an important role in the following:
- Phosphoinositide-3-kinase (PI3K)-AKT pathway and
- Rapamycin (mTOR) signaling pathways
- PTEN track backs to 10q23 which encodes and plays a significant role in the following:
- Effects G1 cell cycle arrest and apoptosis
- Cellular proliferation and
- Migration
- Apoptosis