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=== | ||
| Line 10: | Line 16: | ||
==Clinical== | ==Clinical== | ||
Features:<ref>{{Ref PBoD|858-9}}</ref> | Features:<ref>{{Ref PBoD|858-9}}</ref> | ||
*Hamartomatous polyps. | *[[Hamartomatous polyps]]. | ||
*Facial [[trichilemmoma]]s - hair follicle root sheath epithelium tumour. | *Facial [[trichilemmoma]]s - hair follicle root sheath epithelium tumour. | ||
*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]]. | ||
Latest revision as of 21:41, 13 March 2016
Cowden syndrome, also known as Cowden disease, is constellation of findings due to a PTEN gene mutation.
Molecular
Notes:
- Several syndromes are associated with PTEN mutations:[1][3]
- Bannayan-Riley-Ruvalcaba syndrome (BRRS).[4]
- Proteus-like syndrome.[5]
- Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum).[5]
Trivia
- The PTEN gene is located on chromosome ten.
Clinical
Features:[6]
- Hamartomatous polyps.
- Facial trichilemmomas - hair follicle root sheath epithelium tumour.
- Oral papillomas.
- Acral keratoses (peripheral keratoses).
- Storiform collagenoma.[7]
Lame mnemonic PATH:[8]
- Papilloma (oral).
- Acral keratosis.
- Trichilemmoma.
- Hamartomatous polyps.
Cancer
Strong association with cancer:[9]
- ~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.[3]
- ~20% endometrial cancer.
- ~15% renal cancer.
- ~15% colorectal cancer.
Microscopic
Features:
- Hamartomatous polyp - features non-specific. (???)
See also
References
- ↑ 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 601728
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 158350
- ↑ 3.0 3.1 Laury, AR.; Bongiovanni, M.; Tille, JC.; Kozakewich, H.; Nosé, V. (Feb 2011). "Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity.". Thyroid 21 (2): 135-44. doi:10.1089/thy.2010.0226. PMID 21190448.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 153480
- ↑ 5.0 5.1 Online 'Mendelian Inheritance in Man' (OMIM) 158350
- ↑ Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005). Robbins and Cotran pathologic basis of disease (7th ed.). St. Louis, Mo: Elsevier Saunders. pp. 858-9. ISBN 0-7216-0187-1.
- ↑ Al-Daraji, WI.; Ramsay, HM.; Ali, RB. (Jul 2007). "Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome.". J Clin Pathol 60 (7): 840-2. doi:10.1136/jcp.2005.033621. PMID 17513505.
- ↑ URL: http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm. Accessed on: 6 December 2011.
- ↑ Riegert-Johnson, DL.; Gleeson, FC.; Roberts, M.; Tholen, K.; Youngborg, L.; Bullock, M.; Boardman, LA. (2010). "Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients.". Hered Cancer Clin Pract 8 (1): 6. doi:10.1186/1897-4287-8-6. PMC 2904729. PMID 20565722. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2904729/.