Difference between revisions of "Cowden syndrome"
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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=== | ||
Revision as of 16:54, 30 March 2012
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).
Lame mnemonic PATH:[7]
- Papilloma (oral).
- Acral keratosis.
- Trichilemmoma.
- Hamartomatous polyps.
Cancer
Strong association with cancer:[8]
- ~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.
- ↑ 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/.