Juvenile Polyposis of the Gastrointestinal Tract
Differential Diagnosis
- Cowden disease
- Peutz Jeghers syndrome
- Cronkhite-Canada syndrome
- Hereditary mixed polyposis syndrome
- Gastric hyperplastic polyp
- Serrated (hyperplastic) polyposis
- Familial adenomatous polyposis
| 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 |
| 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 |
| 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 |
| Gastric Hyperplastic Polyp | Juvenile Polyposis |
| No association with similar polyps in the colorectum | Most cases involve the colorectum |
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 |
