Surgical Pathology Criteria

Peutz-Jeghers Syndrome

Differential Diagnosis

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%

 

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 Peutz-Jeghers Syndrome
May have facial pigmented macules but no mucosal involvement described Mucocutaneous hyperpigmentation
Hair, nail, skin pigmentation changes present Internal neoplasms and non-GI polyps may occur
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
Not familial Autosomal dominant

 

Mucosal Prolapse / Cloacogenic Polyp Peutz-Jeghers Polyp
Usually solitary polyp Usually multiple
Smooth muscle surrounds individual crypts Prominent arborizing smooth muscle bundles surround groups of crypts
Polyps rare in small intestine Most polyps in small intestine
Not associated with oral pigmentation Associated with oral pigmentation

 

Gastric Hyperplastic Polyp Peutz-Jeghers Polyposis
Scant smooth muscle in polyps Arborizing muscle in polyps
Frequent cystic dilation Cystic dilation not prominent
No polyps in small intestine Most polyps in small intestine
Not familial Autosomal dominant
No associated mutations LKB1/STK11 mutations in 50-90%
Histologic distinction between these two is poor; clinical findings and distribution are more important

 

Peutz-Jeghers Polyp with Misplaced Glands Small Intestinal Adenocarcinoma
Overlying typical hamartomatous polyp Overlying adenoma may be present
Usually cytologically bland Usually cytologically malignant
Glands may permeate muscle but no desmoplastic response Desmoplastic response usually present
Lamina propria may be retained around entrapped glands No retained lamina propria around infiltrating glands
Glands frequently have a mixed population of cell types - mucus, goblet, paneth cells Monomorphic population

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