An autopsy case of gallbladder cancer developing in a Japanese man with cerebrotendinous xanthomatosis: Genetic analysis of the sterol 27-hydroxylase and p53 genes

Pathology

Volumn 35, Issue 2, 2003, Pages 141-144

  Kato, Hiroya ^a,b   Koyabu, Sukenari ^a   Aoki, Shigenori ^a   Tamai, Takuya ^a   Sugawa, Masahiro ^a   Watanabe, Masatoshi ^b   Shiraishi, Taizo ^b  

^a Division of Internal Medicine   (Japan)

^b MIE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Cerebrotendinous xanthomatosis; Gallbladder cancer; Sterol 27 hydroxylase gene

Indexed keywords

ADENINE; ANTIBIOTIC AGENT; CHENODEOXYCHOLIC ACID; CYTOSINE; GUANINE; PROTEIN P53; STEROL 27 HYDROXYLASE;

ADULT; ANTIBIOTIC THERAPY; ARTICLE; AUTOPSY; BRAIN ATROPHY; BRONCHIOLITIS; CASE REPORT; CELL INFILTRATION; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL FEATURE; CYTOARCHITECTURE; FIBROSING ALVEOLITIS; FOAM CELL; GALLBLADDER CARCINOMA; GENE MUTATION; GRANULOCYTOSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MEDICAL EXAMINATION; MISSENSE MUTATION; PLEURISY; PNEUMONIA; POLYMERASE CHAIN REACTION;

EID: 0038289065     PISSN: 00313025     EISSN: None     Source Type: Journal    
DOI: 10.1080/00313020307568     Document Type: Article

References (15)

1. Leitersdorf E, Meiner V. Cerebrotendinous xanthomatosis. Curr Opin Lipidol 1994; 5: 138-42.
2. Cali JJ, Russell DW. Characterization of human sterol 27-hydroxylase: a mitochondrial cytochrome P450 that catalyzes multiple oxidation reactions in bile acid biosynthesis. J Biol Chem 1991; 266: 7774-8.
3. Cali JJ, Hsieh CL, Francke U, Russell DW. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem 1991; 266: 7779-83.
4. Nakashima N, Sakai Y, Sakai H, et al. A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis. J Lipid Res 1994; 35: 663-8.
5. Lee MH, Hazard S, Carpten JD, et al. Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in US pedigrees. J Lipid Res 2001; 42: 159-69.
6. Kuriyama M, Fujiyama J, Yoshidome H, et al. Cerebrotendinous xanthomatosis: clinical and biochemical evaluation of eight patients and review of the literature. J Neurol Sci 1991; 102: 225-32.
7. Watanabe M, Fukutome K, Shiraishi T, et al. Differences in the p53 gene mutational spectra of prostate cancers between Japan and Western countries. Carcinogenesis 1997; 18: 1355-8.
8. Chen W, Kubota S, Teramoto T, Nishimura Y, Yonemoto K, Seyama Y. Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5′ splice site at the mutant codon in cerebrotendinous xanthomatosis patients. Biochemistry 1998; 37: 4420-8.
9. Buchwald H. Cholesterol inhibition, cancer, and chemotherapy. Lancet 1992; 339: 1154-6.
10. Ogawa T, Makino T, Kosahara K, Koga A, Nakayama F. Promoting effects of both dietary cholesterol and cholestyramine on pancreatic carcinogenesis initiated by N-nitrosobis(2-oxopropyl)amine in Syrian golden hamsters. Carcinogenesis 1992; 13: 2047-52.
11. Iseki J, Ushiyama K, Beppu T, et al. Polyps of the gallbladder: a clinical and pathological study. (Japanese.) J Jpn Surg Soc 1982; 83: 1429-36.
12. Koga A, Yamauchi S, Nakayama F. Primary carcinoma of the gallbladder. Am Surg 1985; 51: 529-33.
13. Akiyama T, Sahara H, Seto K, et al. Gallbladder cancer associated with cholesterosis. J Gastroenterol 1996; 31: 470-4.
14. Shimada K, Yamamoto J, Kosuge T, Sugawara Y, Yamasaki S, Sakamoto M. Adenocarcinoma confined to a cholesterol polyp of the gallbladder. Am J Gastroenterol 1999; 94: 2568-9.
15. Wistuba II, Albores-Saavedra J. Genetic abnormalities involved in the pathogenesis of gallbladder carcinoma. J Hepatobiliary Pancreat Surg 1999; 6: 237-44.