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Colon tumor

Familial polyposis syndromes of colon

Cowden's syndrome


Reviewers: Charanjeet Singh, M.D. (see Reviewers page)
Revised: 14 October 2011, last major update August 2011
Copyright: (c) 2003-2011, PathologyOutlines.com, Inc.

Definition
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● Also known as multiple hamartoma syndrome and PTEN hamartoma-tumor syndrome (eMedicine, OMIM 158350)
● Bannayan-Riley-Ruvalcaba syndrome (OMIM 153480) is also associated with PTEN mutations
● Autosomal dominant (with incomplete penetrance and variable expressivity) with facial tricholemmomas, acral keratoses, oral mucosal papillomas and colorectal polyps (Clin Genet 1986;29:222)
● Patients have increased risk of malignancy (breast and thyroid cancer), but low rate of GI adenomatous polyps or GI malignancy (J Clin Gastroenterol 1986;8:576)

Micro description
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● Hamartomatous features with disorganization, proliferation and splaying of muscularis mucosa
● Polyps have same histology as mucosal prolapse syndromes (colitis cystica profunda)

Molecular description
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● Germline PTEN mutations in 70-80% (J Clin Oncol 2004;22:2954)

Differential diagnosis
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Peutz-Jeghers

End of Colon tumor > Familial polyposis syndromes of colon > Cowden's syndrome


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