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 |
