Surgical Pathology Criteria

Juvenile Polyposis of the Gastrointestinal Tract

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

 

Juvenile Polyposis Peutz-Jeghers Syndrome
No mucocutaneous hyperpigmentation Mucocutaneous hyperpigmentation
Smooth muscle absent or only small amounts in lamina propria Prominent arborizing smooth muscle bundles in GI polyps
Frequent mucous retention cysts Lacks retention cysts
Lacks pseudoinvasion May have displaced mucosa with pseudoinvasion of underlying muscularis propria
Polyps rare in small intestine Most polyps in small intestine
MADH4 or BMPR1A mutations in 40% STK11 mutations in 50-90%

 

Cronkhite-Canada Syndrome Juvenile Polyposis
Most colorectal polyps sessile Most colorectal polyps polypoid
Hair, nail, skin changes present No associated ectodermal changes
No dysplasia Infrequent cases may have focal dysplasia
Not familial Autosomal dominant, 75% are new mutations without family history
The gastrointestinal polyps are largely indistinguishable

 

Juvenile Polyposis Hereditary Mixed Polyposis
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
The gastrointestinal polyps in some cases are indistinguishable

 

Gastric Hyperplastic Polyp Juvenile Polyposis
No association with similar polyps in the colorectum Most cases involve the colorectum
Gastric hyperplastic polyps are indistinguishable from juvenile polyps
In the case of solitary polyps, the distinction is of no significance
Juvenile polyposis has an increased risk of carcinoma and thus should be distinguished

 

Juvenile Polyposis Serrated Polyposis (Hyperplastic Polyposis)
Polypoid Sessile
Prominent cystically dilated glands Cystic dilation not prominent
Irregular glands Glands are vertically arranged and not complex
Prominent inflamed stroma Stroma is not prominent

 

Juvenile Polyposis Familial Adenomatous Polyposis
Dysplasia, if present is focal Multiple adenomatous polyps, all with cytologic dysplasia
Mucous retention cysts prominent Lacks mucous retention cysts

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