Cowden syndrome: Difference between revisions

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'''Cowden syndrome''', ~~[[AKA]]~~ '''Cowden ~~syndrome~~''', is constellation of findings due to a PTEN gene mutation.

'''Cowden syndrome''', also known as '''Cowden disease''', is constellation of findings due to a PTEN gene mutation.

==Molecular==

*Phosphatase and tensin homolog (PTEN) mutation.<ref name=omim601728>{{OMIM|601728}}</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===

*The ''PTEN gene'' is located on chromosome ten.

==Clinical==

Features:<ref>{{Ref PBoD|858-9}}</ref>

*Hamartomatous polyps.

*[[Hamartomatous polyps]].

*Facial ~~trichilemmomas (~~hair follicle root sheath epithelium tumour).

*Facial [[trichilemmoma]]s - hair follicle root sheath epithelium tumour.

*Oral papillomas.

*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===

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.

*Specific types of cancer (lifetime risk) - numbers rounded:

**~80% [[breast cancer]] (in females).

**~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]].

**~15% [[renal cancer]].

**~15% [[colorectal cancer]].

==Microscopic==

Features:

*Hamartomatous polyp - features non-specific. (???)

==See also==

*[[Intestinal polyps]].

*[[Endometrial carcinoma]].

==References==

[[Category:Syndromes]]

@@ Line 1: / Line 1: @@
-'''Cowden syndrome''', [[AKA]] '''Cowden syndrome''', is constellation of findings due to a PTEN gene mutation.
+'''Cowden syndrome''', also known as '''Cowden disease''', is constellation of findings due to a PTEN gene mutation.
+==Molecular==
+*Phosphatase and tensin homolog (PTEN) mutation.<ref name=omim601728>{{OMIM|601728}}</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===
+*The ''PTEN gene'' is located on chromosome ten.
 ==Clinical==
 Features:<ref>{{Ref PBoD|858-9}}</ref>
-*Hamartomatous polyps.
+*[[Hamartomatous polyps]].
-*Facial trichilemmomas (hair follicle root sheath epithelium tumour).
+*Facial [[trichilemmoma]]s - hair follicle root sheath epithelium tumour.
 *Oral papillomas.
 *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===
+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.
+*Specific types of cancer (lifetime risk) - numbers rounded:
+**~80% [[breast cancer]] (in females).
+**~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]].
+**~15% [[renal cancer]].
+**~15% [[colorectal cancer]].
 ==Microscopic==
 Features:
 *Hamartomatous polyp - features non-specific. (???)
+==See also==
+*[[Intestinal polyps]].
+*[[Endometrial carcinoma]].
 ==References==
-{{Reflist|1}}
+{{Reflist|2}}
 [[Category:Syndromes]]

Cowden syndrome: Difference between revisions

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