Difference between revisions of "Cowden syndrome"

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*Phosphatase and tensin homolog (PTEN) mutation.<ref name=omim601728>{{OMIM|601728}}</ref>
*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===
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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>
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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]].

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

  • Phosphatase and tensin homolog (PTEN) mutation.[1]
  • Autosomal dominant inheritance.[2]

Notes:

  • Several syndromes are associated with PTEN mutations:[1][3]

Trivia

  • The PTEN gene is located on chromosome ten.

Clinical

Features:[6]

Lame mnemonic PATH:[8]

  • Papilloma (oral).
  • Acral keratosis.
  • Trichilemmoma.
  • Hamartomatous polyps.

Cancer

Strong association with cancer:[9]

Microscopic

Features:

  • Hamartomatous polyp - features non-specific. (???)

See also

References

  1. ↑ 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 601728
  2. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 158350
  3. ↑ 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.
  4. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 153480
  5. ↑ 5.0 5.1 Online 'Mendelian Inheritance in Man' (OMIM) 158350
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ URL: http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm. Accessed on: 6 December 2011.
  9. ↑ 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/.
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