Succinate dehydrogenase kidney cancer: An aggressive example of the warburg effect in cancer

Journal of Urology

Volumn 188, Issue 6, 2012, Pages 2063-2071

  Ricketts, Christopher J ^a   Shuch, Brian ^a   Vocke, Cathy D ^a   Metwalli, Adam R ^a   Bratslavsky, Gennady ^a   Middelton, Lindsay ^a   Yang, Youfeng ^a   Wei, Ming Hui ^a   Pautler, Stephen E ^d   Peterson, James ^a   Stolle, Catherine A ^e   Zbar, Berton ^a   Merino, Maria J ^a   Schmidt, Laura S ^a,c   Pinto, Peter A ^a   Srinivasan, Ramaprasad ^a   Pacak, Karel ^b   Linehan, W Marston ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c FREDERICK NATIONAL LABORATORY FOR CANCER RESEARCH   (United States)

^d UNIVERSITY OF WESTERN ONTARIO   (Canada)

^e CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

carcinoma, renal cell; citric acid cycle; germ line mutation; kidney; succinate dehydrogenase

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CAROTID BODY TUMOR; CHOLECYSTECTOMY; CHROMOSOMAL LOCALIZATION; CLINICAL ARTICLE; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KIDNEY CANCER; MALE; METASTASIS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONCOGENE; PARTIAL NEPHRECTOMY; PRIORITY JOURNAL; SDHB GENE; SDHC GENE; SDHD GENE; STEREOTACTIC RADIOSURGERY; SUCCINATE DEHYDROGENASE GENE;

ADOLESCENT; ADULT; CARCINOMA, RENAL CELL; DISEASE PROGRESSION; FEMALE; GENETIC DISEASES, INBORN; GENETIC TESTING; GERM-LINE MUTATION; HUMANS; KIDNEY NEOPLASMS; MALE; MIDDLE AGED; PEDIGREE; SUCCINATE DEHYDROGENASE; YOUNG ADULT;

EID: 84869080815     PISSN: 00225347     EISSN: 15273792     Source Type: Journal    
DOI: 10.1016/j.juro.2012.08.030     Document Type: Article

References (30)

1. W.M. Linehan, R. Srinivasan, L.S. Schmidt The genetic basis of kidney cancer: a metabolic disease Nat Rev Urol 7 2010 277
2. I.P. Tomlinson, N.A. Alam, A.J. Rowan Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer Nat Genet 30 2002 406
3. R.L. Grubb III, M.E. Franks, J. Toro Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer J Urol 177 2007 2074
4. J.R. Toro, M.L. Nickerson, M.H. Wei Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America Am J Hum Genet 73 2003 95
5. O. Warburg, K. Posener, E. Negelein Metabolism of the carcinoma cell Biochem Z 152 1924 309
6. J.W. Buchanan Some limitations of Warburg's theory of the role of iron in respiration Science 66 1927 238
7. Y. Yang, V.A. Valera, H.M. Padilla-Nash UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer Cancer Genet Cytogenet 196 2010 45
8. W.H. Tong, C. Sourbier, G. Kovtunovych The glycolytic shift in fumarate-hydratase-deficient kidney cancer lowers AMPK levels, increases anabolic propensities and lowers cellular iron levels Cancer Cell 20 2011 315
9. S. Vanharanta, M. Buchta, S.R. McWhinney Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma Am J Hum Genet 74 2004 153
10. B.E. Baysal, R.E. Ferrell, J.E. Willett-Brozick Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma Science 287 2000 848
11. S. Niemann, U. Muller Mutations in SDHC cause autosomal dominant paraganglioma, type 3 Nat Genet 26 2000 268
12. D. Astuti, F. Douglas, T.W. Lennard Germline SDHD mutation in familial phaeochromocytoma Lancet 357 2001 1181
13. N. Burnichon, J.J. Briere, R. Libe SDHA is a tumor suppressor gene causing paraganglioma Hum Mol Genet 19 2010 3011
14. B. Pasini, S.R. McWhinney, T. Bei Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD Eur J Hum Genet 16 2008 79
15. K.A. Janeway, S.Y. Kim, M. Lodish Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations Proc Natl Acad Sci U S A 108 2011 314
16. H.P. Neumann, C. Pawlu, M. Peczkowska Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations JAMA 292 2004 943
17. U. Srirangalingam, L. Walker, B. Khoo Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers Clin Endocrinol (Oxf) 69 2008 587
18. C. Ricketts, E.R. Woodward, P. Killick Germline SDHB mutations and familial renal cell carcinoma J Natl Cancer Inst 100 2008 1260
19. R.N. Schimke, D.L. Collins, C.A. Stolle Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery Am J Med Genet A 152A 2010 1531
20. S.L. Housley, R.S. Lindsay, B. Young Renal carcinoma with giant mitochondria associated with germ-line mutation and somatic loss of the succinate dehydrogenase B gene Histopathology 56 2010 405
21. A. Henderson, F. Douglas, P. Perros SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis Fam Cancer 8 2009 257
22. A.J. Gill, N.S. Pachter, A. Clarkson Renal tumors and hereditary pheochromocytoma-paraganglioma syndrome type 4 N Engl J Med 364 2011 885
23. Y. Ni, K.M. Zbuk, T. Sadler Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes Am J Hum Genet 83 2008 261
24. A. Malinoc, M. Sullivan, T. Wiech Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3 Endocr Relat Cancer 19 2012 283
25. J.P. Bayley, P. Devilee, P.E. Taschner The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency BMC Med Genet 6 2005 39
26. N. Burnichon, V. Rohmer, L. Amar The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas J Clin Endocrinol Metab 94 2009 2817
27. K.M. Zbuk, A. Patocs, A. Shealy Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma Nat Clin Pract Oncol 4 2007 608
28. C.J. Ricketts, J.R. Forman, E. Rattenberry Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD Hum Mutat 31 2010 41
29. A.J. Gill, N.S. Pachter, A. Chou Renal tumors associated with germline SDHB mutation show distinctive morphology Am J Surg Pathol 35 2011 1578
30. O. Warburg On the origin of cancer cells Science 123 1956 309