Article Abstract:
Familial adenomatous polyposis (FAP) classification is a diagnosis nightmare. A colon-cancer-prone family with a tendency to form small, right-sided adenomas was described in 1988 and eventually the problem was linked to the APC gene with mutations nearer the 5' end. Three classes of APC mutations exist in kindreds having an attenuated phenotype. The range of numbers of adenomas found in those with mutations is very large. Those in practice must be aware of the broad range of signs and symptoms that FAP can present clinically and be aware that classical prophylactic and surveillance practices are not adequate for all cases of FAP. Early upper endoscopy is needed for some families. Those classified as attenuated familial adenomatous polyposis (AFAP) patients should have colonoscopy and polypectomy and if the number of colonic adenomas is so large that they cannot be followed by that means, prophylactic subtotal colectomy with continued follow-up of the rectal segment by endoscopy should be used.
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Article Abstract:
Genotype-phenotype correlations exist in attenuated adenomatous polyposis coli (AAPC), a variant of familial adenomatous polyposis (FAP). A study of such correlations in AAPC families has been carried out. Germ line mutations of the tumor suppressor APC are implicated in AAPC. It appears that in AAPC families, the location of the APC mutation may to some degree predict phenotypic expression. This may be helpful in setting up clinical-management protocols.
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Article Abstract:
A gene for a predisposition to familial thyroid tumors with cell oxyphilia, a new entity of familial nonmedullary thyroid cancer (FNMTC), has been mapped to chromosome 19p13.2 through study of a French pedigree showing multiple multinodular goiter cases and NMTC. Likely relative of those affected with sporadic NMTC with cell oxyphilia should be studied carefully.
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