Phenotypic variation in hereditary adenomatosis: unusual tumor spectrum.
Familial adenomatous polyposis coli is a heterogeneous disease with respect to genetics as well as its colonic polyposis and cancer phenotype. The authors report a family with variation in phenotypic expression of polyps ranging from isolated polyps to florid carpeting of the entire colonic mucosal surface. In addition to early-onset colonic cancer, a patient with isolated polyps had a seminoma and subsequently developed gastroesophageal cancer. His son, also with isolated colonic polyps, manifested a pararectal rhabdomyosarcoma. The significance of these variations can only be assessed fully through the study of cancer of all anatomic sites in many additional families.
D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D007417:Intestinal Polyps / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009377:Multiple Endocrine Neoplasia / Q000235:genetics* / Q000473:pathology; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype