Skip to main content

Table 1 Differences in clinicopathological characteristics and treatment between JPS and FAP

From: Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review

Clinical presentationMultiple juvenile polyps throughout the gastrointestinal tract. The lifetime cancer risk is 10–50%.Early onset of hundreds to thousands of polyps throughout the colorectum. The lifetime cancer risk is 100% by age 50.
Endoscopic appearanceThe polyps vary in size, shape and number. Typical: pedunculated, strawberry shape, 5~100 polyps.Classical: 100-thousands polyps,
Attenuated: < 100 polyps.
Pathological findingsHamartomatous polyps.Adenomatous polyps.
Extracolonic lesionsGastric cancer, small intestine polyp, pancreas cancer, hereditary hemorrhagic telangiectasia (HHT)CHRPE, epidermoid cysts, osteoma, desmoid tumor, hepatoblastoma, supernumerary teeth, thyroid cancer, brain tumor
Genetic investigationsAutosomal dominant, about 50–60% had germline SMAD4 or BMPR1A mutationsAutosomal dominant, about 80% had germline APC mutation.
TreatmentMost could be treated by polypectomy. Colectomy is rarely needed.Most require TC + IRA or TPC + IPAA.
  1. CHRPE Congenital hypertrophy of the retinal pigmented epithelium