Surgical Pathology Criteria

Cowden Disease

Differential Diagnosis

Juvenile Polyposis Cowden Disease
No associated mucocutaneous lesions Most have facial mucocutaneous lesions
No association with breast hamartomas or carcinomas Frequent breast hamartomas and carcinomas
No association with thyroid carcinomas Frequent thyroid carcinomas
PTEN mutations not seen PTEN mutations in 80%
Ganglion cells not seen in GI polyps Ganglion cells may be present in GI polyps
The gastrointestinal polyps are otherwise largely indistinguishable

 

Cowden Disease Peutz-Jeghers Syndrome
Most have facial and oral papillomas, fibromas and skin tumors Perioral mucocutaneous hyperpigmentation
Smooth muscle not a part of polyps Prominent arborizing smooth muscle bundles in GI polyps
Lacks pseudoinvasion May have displaced mucosa with pseudoinvasion of underlying muscularis propria
PTEN mutations in 80% STK11 mutations in 30-70%

 

Cronkhite-Canada Syndrome Cowden Disease
Hair, nail, skin pigmentation changes present Most have facial mucocutaneous lesions, see description
No association with breast hamartomas or carcinomas Frequent breast hamartomas and carcinomas
No association with thyroid carcinomas Frequent thyroid carcinomas
PTEN mutations not seen PTEN mutations in 80%
Not familial Autosomal dominant (half are new mutations without family history)
The gastrointestinal polyps are largely indistinguishable

 

Cowden Disease Hereditary Mixed Polyposis Syndrome
Most cases present in childhood Mean age at presentation 41 years
Usually 50-200 polyps Usually 1-15 polyps, rarely >50
Adenomas infrequent Adenomas common
Most have facial mucocutaneous lesions, see description No associated mucocutaneous lesions
Frequent breast hamartomas and carcinomas No association with breast hamartomas or carcinomas
Frequent thyroid carcinomas No association with thyroid carcinomas
The polyps in some cases are indistinguishable

 

Gastric Hyperplastic Polyp Cowden Disease
No association with similar polyps in the colorectum Many cases involve the colorectum
No associated mucocutaneous lesions Most have facial and oral papillomas, fibromas and skin tumors
No association with breast hamartomas or carcinomas Frequent breast hamartomas and carcinomas
No association with thyroid carcinomas Frequent thyroid carcinomas
PTEN mutations not seen PTEN mutations in 80%
Not familial Autosomal dominant (half are new mutations without family history)
Gastric hyperplastic polyps are indistinguishable from the polyps of Cowden disease

 

Mucosal Prolapse / Cloacogenic Polyp Cowden Disease, Colorectal Polyp
Surface erosions with granulation tissue frequent Surface erosions infrequent
Irregular glands with scattered dilation Prominent, regularly dilated glands
Smooth muscle extension into lamina propria of polyps No smooth muscle in lamina propria of polyps
Restricted to rectum (rarely in sigmoid)

May involve any part of colorectum

No associated lesions Most have facial and oral papillomas, fibromas and skin tumors, see description LINK
No genetic abnormality PTEN mutations in 80%

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