Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas

Cancer Research

Volumn 63, Issue 17, 2003, Pages 5615-5621

  Gimenez Roqueplo, Anne Paule ^a,b   Favier, Judith ^b   Rustin, Pierre ^c   Rieubland, Claudine ^a   Crespin, Malvina ^a   Nau, Valérie ^a   Van Kien, Philippe Khan ^a   Corvol, Pierre ^a,b   Plouin, Pierre François ^a,b   Jeunemaitre, Xavier ^a,b  

^a HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE B; SUCCINATE DEHYDROGENASE D; UNCLASSIFIED DRUG;

ADRENAL TUMOR; ADULT; ARTICLE; CHROMOSOME 1P; CONTROLLED STUDY; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC CODE; GENETIC RISK; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOTYPE; GERM LINE; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; ONCOGENE RET; PHENOTYPE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; RESPIRATORY CHAIN; RISK FACTOR; SDHB GENE; SDHD GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR RECURRENCE; TUMOR SUPPRESSOR GENE; VHL GENE;

ADRENAL GLAND NEOPLASMS; ADULT; DNA, NEOPLASM; FEMALE; GERM-LINE MUTATION; HUMANS; IRON-SULFUR PROTEINS; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; PHEOCHROMOCYTOMA; PROTEIN SUBUNITS; SUCCINATE DEHYDROGENASE; URINARY BLADDER NEOPLASMS;

EID: 0141704510     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. Manger, W. M., and Gifford, R W., Jr. Phaeochromocytoma: a clinical overview, hill: J. H. Laragh and B.M. Brenner Hypertension: Pathophysiology, Diagnosis, and Management, Ed. 2, Vol. 2, pp. 2225-2244. New York: Raven Press, Ltd., 1995.
2. Baysal, B. E. Otolar-Genetics of familial paragangliomas: pist, present, and future. Otolaryngol. Clin. North Am., 34: 863-879, 2001.
3. Plouin, P. F., Chatellier, G., Fofol, I., and Corvol, P. Tumor recurrence and hyper tension persistence after successful pheochromocytoma operation. Hypertension, 29: 1133-1139, 1997.
4. Neumann, H. P., Hoegerle, S., Manz., Brenner, K., and lliopoulos, O. How many pathways to pheochromocytoma? Semin. Nephrol., 22: 89-99, 2002.
5. Eng, C., and Maher, E. Dominant genes and phakomatoses associated with multiple primary cancers. In: A. I. Neugut, A. T. Meadows, and E. Robinson (eds.), Multiple Primary Cancers, pp. 165-195. Philadelphia: Lippincott Williams & Wilkins, 1999.
6. Dluhy, R. G. Pheochromocyloma-death of on axiom. N. Engl. J. Med., 346: 1486-1488, 2002.
7. Baysal, B. E., Ferrell, R. E., Willett-Brozick, J. E., et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science (Wash. DC), 287: 848-851, 2000.
8. Nicinann, S., Müller, U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat. Genet., 26: 268-270, 2000.
9. Maher, E. R., and Eng, C. The pressure rises: update on the genetics of phaeochromocytoma. Hum. Mol. Genet., 11: 2347-2354, 2002.
10. Neumann, H. P., Bausch, B., MeWhinney, S. R., et al. Germ-line mutations in nonsyndromic pheochromocytoma. N. Engl. J. Med., 346: 1459-1466, 2002.
11. Gimenez-Roqueplo, A. P., Favier, J., Rustin, P., et al. The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. Am. J. Hum. Genet., 69: 1186-1197, 2001.
12. Gimenez-Roqueplo, A. P., Favier, J., Rustin, P., et al. Functional consequence, of a SDHB gene mutation in an apparently sporadic pheochromocytoma Clin. Endocrinol. Metab., 87: 4771-4774, 2002.
13. Favier, J., Plouin, P. F., Corvol, P., and Gase J. M. Angiogenesis and vascular architecture in pheochromocytomastraits in malignant tors. Am. J. Pathol., 161: 1235-1246, 2002.
14. Latif, F., Tory, K., and Gnarra, J., et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science (Wash. DC), 260: 1317-1320, 1993.
15. Eng, C., Mulligan, L. M. Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease. Hum. Murat., 9: 97-109, 1997.
16. Rustin P., Chretien, D., Bourgeron, T., et al. Biochemical and molecular investigations in respiratory chain deficiencies.lin. Chim. Acta, 228: 35-51, 1994.
17. Favier, J., Kempf, H., Corvol, P., and Gasc, J. M. Cloning and expression pattern of EPAS 1 in the chicken embryo. Colocalization with tyrosine hydroxylase. FEBS Left., 462: 19-24, 1999.
18. Mundschenk, J., and Lehnert, H. Malignant pheochromocytoma. Exp. Clin. Endocrinol. Diabetes, 106: 373-376, 1998.
19. Eng, C., Clayton, D., Schuffenecker, I., et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple type. 2. International RET mutation consortium analysis. JAMA, 276: 1575-1579, 1996.
20. Friedrich, C. A. Von Hippel-Lindau syndrome. A pleomorphic condition. Cancer 86 (Suppl. 11): 2478-2482, 1999
21. Masuoka J., Brandner, S., Paulus, W., et al. Germline SDHD mutation in paraganglioma of the spinal cord. Oncogene, 20: 5084-5086, 2001.
22. Kytola, S., Nord, B., Elder, E. E., et al. Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas. Genes. Chromosomes Cancer, 34: 325-332, 2002.
23. Cascon, A., Ruiz-Llorente, S., Cebrian, A., et al. Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma. Eur. J. Hum. Genet., 10: 457-461, 2002.
24. Taschner, P. E., Jansen, J. C., Baysal, B. E., et al. Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer, 31: 274-281, 2001.
25. Baysal, B. E. Hereditary paraganglioma targets diverse paraganglia. J. Med. Genet., 39: 617-622, 2002.
26. Benn, D. E., Croxson, M. S., Tucker, K., et al. Novel succinate dehydrogenasc subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. Oncogene, 22: 1358-1364, 2003.
27. Young, A. L., Baysal, B. E., Deb, A., and Young, W. F., Jr. Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene. J. Clin. Endocrinol. Metab., 87: 4101-4105, 2002.
28. Rustin, P., Munnich nate Succinate dehydrogenase and human diseases: new insights into a well-known enzyme. Eur. J. Hum. Genet., 10: 289-291, 2002.
29. Tomlinson, I. P. M., Alam, N. A., Rowan, A. J. et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat. Genet., 30: 406-409, 2002
30. Benn, D. E., Dwight, T., Richardson, A. L., et al. Sporadic and familial pheochromocytomas are associated with loss of at least two discrete intervals on chromosome lp. Cancer Res., 60: 7048-7051, 2000.
31. Dannenberg, H., Speel, E. J., Zhao, J., et al. Losses of chromosomes 1p and 3q are early genetic events in the development of sporadic pheochromocytomas. Am. J. Pathol., 157: 353-359, 2000.