Phenotypic variation in hereditary adenomatosis
- 1 April 1982
- journal article
- research article
- Published by Wolters Kluwer Health in Diseases of the Colon & Rectum
- Vol. 25 (3) , 235-238
- https://doi.org/10.1007/bf02553113
Abstract
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.This publication has 3 references indexed in Scilit:
- Pararectal rhabdomyosarcomaDiseases of the Colon & Rectum, 1980
- Familial polyposis coli: heterogeneous polyp expression in 2 kindreds.Journal of Medical Genetics, 1979
- Malignant tumors of the central nervous system associated with familial polyposis of the colonDiseases of the Colon & Rectum, 1959