Cowden syndrome - Revision history

Michael: /* Clinical */

2016-03-13T21:41:36Z

Clinical

← Older revision		Revision as of 21:41, 13 March 2016
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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>		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>

Michael: /* Molecular */

2012-03-30T16:54:02Z

Molecular

← Older revision		Revision as of 16:54, 30 March 2012
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	**Bannayan-Riley-Ruvalcaba syndrome (BRRS).<ref name=omim153480>{{OMIM\|153480}}</ref>		**Bannayan-Riley-Ruvalcaba syndrome (BRRS).<ref name=omim153480>{{OMIM\|153480}}</ref>
	**Proteus-like syndrome.<ref name=omim158350>{{OMIM\|158350}}</ref>		**Proteus-like syndrome.<ref name=omim158350>{{OMIM\|158350}}</ref>
	**[[Lhermitte-Duclos disease]].<ref name=omim158350>{{OMIM\|158350}}</ref>		**[[Lhermitte-Duclos disease]] (dysplastic gangliocytoma of the cerebellum).<ref name=omim158350>{{OMIM\|158350}}</ref>

	===Trivia===		===Trivia===

Michael: /* Molecular */ w

2012-01-21T17:30:22Z

Molecular: w

← Older revision		Revision as of 17:30, 21 January 2012
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	**Bannayan-Riley-Ruvalcaba syndrome (BRRS).<ref name=omim153480>{{OMIM\|153480}}</ref>		**Bannayan-Riley-Ruvalcaba syndrome (BRRS).<ref name=omim153480>{{OMIM\|153480}}</ref>
	**Proteus-like syndrome.<ref name=omim158350>{{OMIM\|158350}}</ref>		**Proteus-like syndrome.<ref name=omim158350>{{OMIM\|158350}}</ref>
	**Lhermitte-Duclos disease.<ref name=omim158350>{{OMIM\|158350}}</ref>		**[[Lhermitte-Duclos disease]].<ref name=omim158350>{{OMIM\|158350}}</ref>

	===Trivia===		===Trivia===

Michael: /* Molecular */ fix ref

2011-12-28T15:25:36Z

Molecular: fix ref

← Older revision		Revision as of 15:25, 28 December 2011
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	Notes:		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>		*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>		**Bannayan-Riley-Ruvalcaba syndrome (BRRS).<ref name=omim153480>{{OMIM\|153480}}</ref>
	**Proteus-like syndrome.<ref name=omim158350>{{OMIM\|158350}}</ref>		**Proteus-like syndrome.<ref name=omim158350>{{OMIM\|158350}}</ref>
	**Lhermitte-Duclos disease.<ref name=omim158350>{{OMIM\|158350}}</ref>		**Lhermitte-Duclos disease.<ref name=omim158350>{{OMIM\|158350}}</ref>

Michael: /* Molecular */

2011-12-28T15:24:58Z

Molecular

← Older revision		Revision as of 15:24, 28 December 2011
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	Notes:		Notes:
	*Several syndromes are associated with PTEN mutations:<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><ref name=omim601728>{{OMIM\|601728~~}}</ref>		*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>		**Bannayan-Riley-Ruvalcaba syndrome (BRRS).<ref name=omim153480>{{omim\|153480}}</ref>
	**Proteus-like syndrome.<ref name=omim158350>{{OMIM\|158350}}</ref>		**Proteus-like syndrome.<ref name=omim158350>{{OMIM\|158350}}</ref>

Michael: /* Molecular */

2011-12-28T15:24:22Z

Molecular

← Older revision		Revision as of 15:24, 28 December 2011
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	*Autosomal dominant inheritance.<ref name=OMIM158350>{{OMIM\|158350}}</ref>		*Autosomal dominant inheritance.<ref name=OMIM158350>{{OMIM\|158350}}</ref>

	~~===Trivia===~~		Notes:
	*The ''PTEN gene'' is located on chromosome ten.
	*Several syndromes are associated with PTEN mutations:<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><ref name=omim601728>{{OMIM\|601728}}</ref>		*Several syndromes are associated with PTEN mutations:<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><ref name=omim601728>{{OMIM\|601728}}</ref>
	**Bannayan-Riley-Ruvalcaba syndrome (BRRS).<ref name=omim153480>{{omim\|153480}}</ref>		**Bannayan-Riley-Ruvalcaba syndrome (BRRS).<ref name=omim153480>{{omim\|153480}}</ref>
	**Proteus-like syndrome.<ref name=omim158350>{{OMIM\|158350}}</ref>		**Proteus-like syndrome.<ref name=omim158350>{{OMIM\|158350}}</ref>
	**Lhermitte-Duclos disease.<ref name=omim158350>{{OMIM\|158350}}</ref>		**Lhermitte-Duclos disease.<ref name=omim158350>{{OMIM\|158350}}</ref>

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

	==Clinical==		==Clinical==

Michael: /* Molecular */ more

2011-12-28T15:23:59Z

Molecular: more

← Older revision		Revision as of 15:23, 28 December 2011
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	===Trivia===		===Trivia===
	*The ''PTEN gene'' is located on chromosome ten.		*The ''PTEN gene'' is located on chromosome ten.
			*Several syndromes are associated with PTEN mutations:<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><ref name=omim601728>{{OMIM\|601728}}</ref>
			**Bannayan-Riley-Ruvalcaba syndrome (BRRS).<ref name=omim153480>{{omim\|153480}}</ref>
			**Proteus-like syndrome.<ref name=omim158350>{{OMIM\|158350}}</ref>
			**Lhermitte-Duclos disease.<ref name=omim158350>{{OMIM\|158350}}</ref>

	==Clinical==		==Clinical==

Michael: /* Cancer */

2011-12-28T15:12:08Z

Cancer

← Older revision		Revision as of 15:12, 28 December 2011
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	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]].

Michael: /* Cancer */ types

2011-12-28T15:10:58Z

Cancer: types

← Older revision		Revision as of 15:10, 28 December 2011
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	**~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]].

Michael: /* Clinical */

2011-12-14T05:26:45Z

Clinical

← Older revision		Revision as of 05:26, 14 December 2011
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	*Acral keratosis.		*Acral keratosis.
	*Trichilemmoma.		*Trichilemmoma.
	*~~Hamartoma~~.		*Hamartomatous polyps.

	===Cancer===		===Cancer===

← Older revision		Revision as of 15:25, 28 December 2011
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	Notes:		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>		*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>		**Bannayan-Riley-Ruvalcaba syndrome (BRRS).<ref name=omim153480>{{OMIM\|153480}}</ref>
	**Proteus-like syndrome.<ref name=omim158350>{{OMIM\|158350}}</ref>		**Proteus-like syndrome.<ref name=omim158350>{{OMIM\|158350}}</ref>
	**Lhermitte-Duclos disease.<ref name=omim158350>{{OMIM\|158350}}</ref>		**Lhermitte-Duclos disease.<ref name=omim158350>{{OMIM\|158350}}</ref>