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Difference between revisions of "Cowden syndrome"
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==Molecular== | ==Molecular== | ||
*PTEN mutation. | *Phosphatase and tensin homolog (PTEN) mutation.<ref name=omim601728>{{OMIM|601728}}</ref> | ||
*Autosomal dominant inheritance.<ref name=OMIM158350>{{OMIM|158350}}</ref> | *Autosomal dominant inheritance.<ref name=OMIM158350>{{OMIM|158350}}</ref> | ||
Notes: | |||
*Several syndromes are associated with PTEN mutations:<ref name=omim601728>{{OMIM|601728}}</ref><ref name=pmid21190448>{{Cite journal | last1 = Laury | first1 = AR. | last2 = Bongiovanni | first2 = M. | last3 = Tille | first3 = JC. | last4 = Kozakewich | first4 = H. | last5 = Nosé | first5 = V. | title = Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. | journal = Thyroid | volume = 21 | issue = 2 | pages = 135-44 | month = Feb | year = 2011 | doi = 10.1089/thy.2010.0226 | PMID = 21190448 }}</ref> | |||
**Bannayan-Riley-Ruvalcaba syndrome (BRRS).<ref name=omim153480>{{OMIM|153480}}</ref> | |||
**Proteus-like syndrome.<ref name=omim158350>{{OMIM|158350}}</ref> | |||
**[[Lhermitte-Duclos disease]] (dysplastic gangliocytoma of the cerebellum).<ref name=omim158350>{{OMIM|158350}}</ref> | |||
===Trivia=== | ===Trivia=== | ||
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*Oral papillomas. | *Oral papillomas. | ||
*Acral keratoses (peripheral keratoses). | *Acral keratoses (peripheral keratoses). | ||
*Storiform collagenoma.<ref name=pmid17513505>{{Cite journal | last1 = Al-Daraji | first1 = WI. | last2 = Ramsay | first2 = HM. | last3 = Ali | first3 = RB. | title = Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome. | journal = J Clin Pathol | volume = 60 | issue = 7 | pages = 840-2 | month = Jul | year = 2007 | doi = 10.1136/jcp.2005.033621 | PMID = 17513505 }}</ref> | |||
Lame mnemonic ''PATH'':<ref>URL: [http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm]. Accessed on: 6 December 2011.</ref> | |||
*Papilloma (oral). | |||
*Acral keratosis. | |||
*Trichilemmoma. | |||
*Hamartomatous polyps. | |||
===Cancer=== | ===Cancer=== | ||
Strong association with cancer:<ref name=pmid20565722>{{Cite journal | last1 = Riegert-Johnson | first1 = DL. | last2 = Gleeson | first2 = FC. | last3 = Roberts | first3 = M. | last4 = Tholen | first4 = K. | last5 = Youngborg | first5 = L. | last6 = Bullock | first6 = M. | last7 = Boardman | first7 = LA. | title = Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. | journal = Hered Cancer Clin Pract | volume = 8 | issue = 1 | pages = 6 | month = | year = 2010 | doi = 10.1186/1897-4287-8-6 | PMID = 20565722 | PMC = 2904729 }}</ref> | Strong association with cancer:<ref name=pmid20565722>{{Cite journal | last1 = Riegert-Johnson | first1 = DL. | last2 = Gleeson | first2 = FC. | last3 = Roberts | first3 = M. | last4 = Tholen | first4 = K. | last5 = Youngborg | first5 = L. | last6 = Bullock | first6 = M. | last7 = Boardman | first7 = LA. | title = Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. | journal = Hered Cancer Clin Pract | volume = 8 | issue = 1 | pages = 6 | month = | year = 2010 | doi = 10.1186/1897-4287-8-6 | PMID = 20565722 | PMC = 2904729 }}</ref> | ||
*~90% lifetime risk for cancer. | *~90% lifetime risk for cancer. | ||
*Specific types of cancer (lifetime risk): | *Specific types of cancer (lifetime risk) - numbers rounded: | ||
**~80% [[breast cancer]] (in females). | **~80% [[breast cancer]] (in females). | ||
**~20% [[thyroid cancer]]. | **~20% [[thyroid cancer]]. | ||
***Predominantly [[papillary thyroid carcinoma]] and [[follicular thyroid carcinoma]] - in that order.<ref name=pmid21190448>{{Cite journal | last1 = Laury | first1 = AR. | last2 = Bongiovanni | first2 = M. | last3 = Tille | first3 = JC. | last4 = Kozakewich | first4 = H. | last5 = Nosé | first5 = V. | title = Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. | journal = Thyroid | volume = 21 | issue = 2 | pages = 135-44 | month = Feb | year = 2011 | doi = 10.1089/thy.2010.0226 | PMID = 21190448 }}</ref> | |||
**~20% [[endometrial cancer]]. | **~20% [[endometrial cancer]]. | ||
**~15% [[renal cancer]]. | **~15% [[renal cancer]]. | ||