Cowden syndrome pathophysiology: Difference between revisions
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=== Pathogenesis === | === Pathogenesis === | ||
* [[Cowden syndrome]] is transmitted in [[autosomal dominant]] pattern.<ref name="Eng2000">{{cite journal|last1=Eng|first1=C.|title=Will the real Cowden syndrome please stand up: revised diagnostic criteria|journal=Journal of Medical Genetics|volume=37|issue=11|year=2000|pages=828–830|issn=14686244|doi=10.1136/jmg.37.11.828}}</ref> | * [[Cowden syndrome]] is transmitted in [[autosomal dominant]] pattern.<ref name="Eng2000">{{cite journal|last1=Eng|first1=C.|title=Will the real Cowden syndrome please stand up: revised diagnostic criteria|journal=Journal of Medical Genetics|volume=37|issue=11|year=2000|pages=828–830|issn=14686244|doi=10.1136/jmg.37.11.828}}</ref> | ||
*<nowiki/>[[Genes]] involved in the [[pathogenesis]] of [[cowden syndrome]]<nowiki/> include:<ref name="PilarskiBurt2013">{{cite journal|last1=Pilarski|first1=R.|last2=Burt|first2=R.|last3=Kohlman|first3=W.|last4=Pho|first4=L.|last5=Shannon|first5=K. M.|last6=Swisher|first6=E.|title=Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria|journal=JNCI Journal of the National Cancer Institute|volume=105|issue=21|year=2013|pages=1607–1616|issn=0027-8874|doi=10.1093/jnci/djt277}}</ref> | *<nowiki/>[[Genes]] involved in the [[pathogenesis]] of [[cowden syndrome]]<nowiki/> include:<ref name="PilarskiBurt2013">{{cite journal|last1=Pilarski|first1=R.|last2=Burt|first2=R.|last3=Kohlman|first3=W.|last4=Pho|first4=L.|last5=Shannon|first5=K. M.|last6=Swisher|first6=E.|title=Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria|journal=JNCI Journal of the National Cancer Institute|volume=105|issue=21|year=2013|pages=1607–1616|issn=0027-8874|doi=10.1093/jnci/djt277}}</ref> | ||
* [[Mutations]] in the [[PTEN gene]] leads to [[oncogenesis]], and <nowiki/>[[Somatic mutation|somatic mutations]] | * [[Mutations]] in the [[PTEN gene]] leads to [[oncogenesis]], and <nowiki/>[[Somatic mutation|somatic mutations]] | ||
* [[Phosphatase]] and tensin homolog (''[[PTEN (gene)|PTEN]]'') [[gene]] plays an important role in the following:<ref name="pmid15254063">{{cite journal |vauthors=Sansal I, Sellers WR |title=The biology and clinical relevance of the PTEN tumor suppressor pathway |journal=J. Clin. Oncol. |volume=22 |issue=14 |pages=2954–63 |date=July 2004 |pmid=15254063 |doi=10.1200/JCO.2004.02.141 |url=}}</ref><ref name="pmid19177005">{{cite journal |vauthors=Krymskaya VP, Goncharova EA |title=PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects |journal=Cell Cycle |volume=8 |issue=3 |pages=403–13 |date=February 2009 |pmid=19177005 |doi=10.4161/cc.8.3.7555 |url=}}</ref><ref name="pmid86730883">{{cite journal |vauthors=Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C |title=Localization of the gene for Cowden disease to chromosome 10q22-23 |journal=Nat. Genet. |volume=13 |issue=1 |pages=114–6 |date=May 1996 |pmid=8673088 |doi=10.1038/ng0596-114 |url=}}</ref> | * [[Phosphatase]] and tensin homolog (''[[PTEN (gene)|PTEN]]'') [[gene]] plays an important role in the following:<ref name="pmid15254063">{{cite journal |vauthors=Sansal I, Sellers WR |title=The biology and clinical relevance of the PTEN tumor suppressor pathway |journal=J. Clin. Oncol. |volume=22 |issue=14 |pages=2954–63 |date=July 2004 |pmid=15254063 |doi=10.1200/JCO.2004.02.141 |url=}}</ref><ref name="pmid19177005">{{cite journal |vauthors=Krymskaya VP, Goncharova EA |title=PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects |journal=Cell Cycle |volume=8 |issue=3 |pages=403–13 |date=February 2009 |pmid=19177005 |doi=10.4161/cc.8.3.7555 |url=}}</ref><ref name="pmid86730883">{{cite journal |vauthors=Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C |title=Localization of the gene for Cowden disease to chromosome 10q22-23 |journal=Nat. Genet. |volume=13 |issue=1 |pages=114–6 |date=May 1996 |pmid=8673088 |doi=10.1038/ng0596-114 |url=}}</ref> | ||
** <nowiki/> [[Phosphoinositide 3-kinase|Phosphoinositide]]-3-[[kinase]] ([[PI3K]])-[[AKT]] pathway and | ** <nowiki/> [[Phosphoinositide 3-kinase|Phosphoinositide]]-3-[[kinase]] ([[PI3K]])-[[AKT]] pathway and | ||
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** ''[[SEC23B]]'' [[gene]] [[mutation]] | ** ''[[SEC23B]]'' [[gene]] [[mutation]] | ||
** [[Epidermal growth factor receptor]] (''[[EGFR]]'') [[gene]] [[mutation]] | ** [[Epidermal growth factor receptor]] (''[[EGFR]]'') [[gene]] [[mutation]] | ||
==Associated Conditions== | ==Associated Conditions== | ||
Revision as of 17:52, 19 February 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
The exact pathogenesis of [disease name] is not fully understood.
OR
It is thought that cowden syndrome is the result caused by phosphatase and tensin homolog (PTEN) gene mutations. Cowden syndrome follows autosomal dominant pattern of inheritance.
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR
The progression to [disease name] usually involves the [molecular pathway].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
Pathophysiology
Physiology
The normal physiology of PTEN gene can be understood as follows:
- Location of PTEN gene tracks back to 10q22-23 chromosome.[1]
- PTEN gene is an tumor suppressor gene.
- PTEN gene whose function affects in the following:[2]
- Cell cycle progression
- Cell proliferation
- Chemotaxis
- Apoptosis
- Aging
- Muscle contractility
- DNA damage response
- Angiogenesis and
- Cell polarity
Pathogenesis
- The exact pathogenesis of [disease name] is not completely understood.
OR
- It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
- [Pathogen name] is usually transmitted via the [transmission route] route to the human host.
- Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
- [Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
- The progression to [disease name] usually involves the [molecular pathway].
- The pathophysiology of [disease/malignancy] depends on the histological subtype.
Genetics
Pathogenesis
- Cowden syndrome is transmitted in autosomal dominant pattern.[3]
- Genes involved in the pathogenesis of cowden syndrome include:[4]
- Mutations in the PTEN gene leads to oncogenesis, and somatic mutations
- Phosphatase and tensin homolog (PTEN) gene plays an important role in the following:[5][6][7]
- 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:[8][9][10]
- Effects G1 cell cycle arrest and apoptosis
- Cellular proliferation and
- Migration
- Apoptosis
- Other gene mutations involved in the pathogenesis of cowden syndrome include:
Associated Conditions
Conditions associated with [disease name] include:
- [Condition 1]
- [Condition 2]
- [Condition 3]
Gross Pathology
On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
Microscopic Pathology
On microscopic histopathological analysis, non dysplastic epithelium, dilated glands, expanded stroma are characteristic findings of colon polyps in cowden syndrome.
References
- ↑ Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C (May 1996). "Localization of the gene for Cowden disease to chromosome 10q22-23". Nat. Genet. 13 (1): 114–6. doi:10.1038/ng0596-114. PMID 8673088.
- ↑ Keniry M, Parsons R (September 2008). "The role of PTEN signaling perturbations in cancer and in targeted therapy". Oncogene. 27 (41): 5477–85. doi:10.1038/onc.2008.248. PMID 18794882.
- ↑ Eng, C. (2000). "Will the real Cowden syndrome please stand up: revised diagnostic criteria". Journal of Medical Genetics. 37 (11): 828–830. doi:10.1136/jmg.37.11.828. ISSN 1468-6244.
- ↑ Pilarski, R.; Burt, R.; Kohlman, W.; Pho, L.; Shannon, K. M.; Swisher, E. (2013). "Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria". JNCI Journal of the National Cancer Institute. 105 (21): 1607–1616. doi:10.1093/jnci/djt277. ISSN 0027-8874.
- ↑ Sansal I, Sellers WR (July 2004). "The biology and clinical relevance of the PTEN tumor suppressor pathway". J. Clin. Oncol. 22 (14): 2954–63. doi:10.1200/JCO.2004.02.141. PMID 15254063.
- ↑ Krymskaya VP, Goncharova EA (February 2009). "PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects". Cell Cycle. 8 (3): 403–13. doi:10.4161/cc.8.3.7555. PMID 19177005.
- ↑ Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C (May 1996). "Localization of the gene for Cowden disease to chromosome 10q22-23". Nat. Genet. 13 (1): 114–6. doi:10.1038/ng0596-114. PMID 8673088.
- ↑ Stambolic V, Suzuki A, de la Pompa JL, Brothers GM, Mirtsos C, Sasaki T, Ruland J, Penninger JM, Siderovski DP, Mak TW (October 1998). "Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN". Cell. 95 (1): 29–39. PMID 9778245.
- ↑ Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C (May 1996). "Localization of the gene for Cowden disease to chromosome 10q22-23". Nat. Genet. 13 (1): 114–6. doi:10.1038/ng0596-114. PMID 8673088.
- ↑ Keniry M, Parsons R (September 2008). "The role of PTEN signaling perturbations in cancer and in targeted therapy". Oncogene. 27 (41): 5477–85. doi:10.1038/onc.2008.248. PMID 18794882.
- ↑ Bennett KL, Mester J, Eng C (December 2010). "Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome". JAMA. 304 (24): 2724–31. doi:10.1001/jama.2010.1877. PMID 21177507.
- ↑ Cho YJ, Liang P (April 2008). "Killin is a p53-regulated nuclear inhibitor of DNA synthesis". Proc. Natl. Acad. Sci. U.S.A. 105 (14): 5396–401. doi:10.1073/pnas.0705410105. PMC 2291080. PMID 18385383.
- ↑ Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C (August 2008). "Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes". Am. J. Hum. Genet. 83 (2): 261–8. doi:10.1016/j.ajhg.2008.07.011. PMC 2495063. PMID 18678321.