Difference between revisions of "Cowden syndrome"
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'''Cowden syndrome''', | '''Cowden syndrome''', also known as '''Cowden disease''', is constellation of findings due to a PTEN gene mutation. | ||
==Molecular== | |||
*PTEN mutation. | |||
*Autosomal dominant inheritance.<ref name=OMIM158350>{{OMIM|158350}}</ref> | |||
==Clinical== | ==Clinical== | ||
| Line 7: | Line 11: | ||
*Oral papillomas. | *Oral papillomas. | ||
*Acral keratoses (peripheral keratoses). | *Acral keratoses (peripheral keratoses). | ||
===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. | |||
**~80% [[breast cancer]] risk in females. | |||
**~20% [[thyroid cancer]]. | |||
**~20% [[endometrial cancer]]. | |||
**~15% [[renal cancer]]. | |||
**~15% [[colorectal cancer]]. | |||
==Microscopic== | ==Microscopic== | ||
Features: | Features: | ||
*Hamartomatous polyp - features non-specific. (???) | *Hamartomatous polyp - features non-specific. (???) | ||
==See also== | |||
*[[Intestinal polyps]]. | |||
*[[Endometrial carcinoma]]. | |||
==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
Revision as of 13:47, 29 June 2011
Cowden syndrome, also known as Cowden disease, is constellation of findings due to a PTEN gene mutation.
Molecular
- PTEN mutation.
- Autosomal dominant inheritance.[1]
Clinical
Features:[2]
- Hamartomatous polyps.
- Facial trichilemmomas (hair follicle root sheath epithelium tumour).
- Oral papillomas.
- Acral keratoses (peripheral keratoses).
Cancer
Strong association with cancer:[3]
- ~90% lifetime risk.
- ~80% breast cancer risk in females.
- ~20% thyroid cancer.
- ~20% endometrial cancer.
- ~15% renal cancer.
- ~15% colorectal cancer.
Microscopic
Features:
- Hamartomatous polyp - features non-specific. (???)
See also
References
- ↑ 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.
- ↑ 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/.