Cowden syndrome
Jump to navigation
Jump to search
The printable version is no longer supported and may have rendering errors. Please update your browser bookmarks and please use the default browser print function instead.
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/.