Clinical Features of Familial Adenomatous Polyposis:Genotype-phenotype Correlation and Chemoprevention Koichi Koizumi 1 , Masakazu Maruyama 1 1Department of Internal Medicine, Cancer Institute Hospital Keyword: polyposis , APC , sulindac , 家族性大腸腺腫症 , デスモイド腫瘍 pp.543-550
Published Date 1997/3/25
DOI https://doi.org/10.11477/mf.1403105098
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 According to the number of colorectal adenomas, familial adenomatous polyposis is classified under three phenotypes; profuse type, sparse type and attenuated type. The mean age of diagnosed polyposis, cancer and of death differs depending on which type is present. Each phenotype has a relationship with a certain mutation on the APC gene. Some of the extra colonic manifestations, such as desmoid tumor and hypertrophy of the retinal pigment epithelium also have a certain relationship with a specific mutation.

 Sulindac induces regression of colorectal adenomas. The number and size of adenomas were reduced after 6 months administration of sulindac. Desmoid tumor is also reduced by sulindac therapy.

 Both genotype-phenotype correlation and sulindac chemoprevention are important for managing patients so that they wont develop desmoid tumor and tumor of the residual rectum.

Copyright © 1997, Igaku-Shoin Ltd. All rights reserved.


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