Abstract
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disorder characterised by xanthomas, neurological dysfunctions and premature atherosclerosis. A case of a well differentiated adenocarcinoma of the gallbladder occurring in a 57-year-old Japanese man with CTX, confirmed clinically, biochemically and at autopsy is reported together with analyses of the sterol 27-hydroxylase (CYP27) and p53 genes. A missense mutation of the p53 (G for C) was detected in the gallbladder adenocarcinoma. Direct sequence analysis also showed a silent mutational substitution of unknown significance, C for A, in CYP27 at codon 89. In the past, CTX patients have only demonstrated this infrequently, indicating no direct relationship between CYP27 dysfunction and tumour development. Thus, the present case of gallbladder cancer appears to be a chance occurrence.
MeSH terms
-
Achilles Tendon / metabolism
-
Achilles Tendon / pathology
-
Adenocarcinoma / complications
-
Adenocarcinoma / genetics*
-
Adenocarcinoma / metabolism
-
Adenocarcinoma / pathology*
-
Biomarkers, Tumor / metabolism
-
Cholestanetriol 26-Monooxygenase
-
DNA Mutational Analysis
-
DNA, Neoplasm / analysis
-
Gallbladder Neoplasms / complications
-
Gallbladder Neoplasms / genetics*
-
Gallbladder Neoplasms / metabolism
-
Gallbladder Neoplasms / pathology*
-
Genes, p53*
-
Humans
-
Immunoenzyme Techniques
-
Male
-
Middle Aged
-
Mutation, Missense
-
Steroid Hydroxylases / genetics*
-
Steroid Hydroxylases / metabolism
-
Tumor Suppressor Protein p53 / genetics
-
Tumor Suppressor Protein p53 / metabolism
-
Xanthomatosis, Cerebrotendinous / complications
-
Xanthomatosis, Cerebrotendinous / genetics*
-
Xanthomatosis, Cerebrotendinous / metabolism
-
Xanthomatosis, Cerebrotendinous / pathology*
Substances
-
Biomarkers, Tumor
-
DNA, Neoplasm
-
Tumor Suppressor Protein p53
-
Steroid Hydroxylases
-
CYP27A1 protein, human
-
Cholestanetriol 26-Monooxygenase