Mutations of the metabolic genes IDH1, IDH2, and SDHAF2 are not major determinants of the pseudohypoxic phenotype of sporadic pheochromocytomas and paragangliomas

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 3, 2010, Pages 1469-1472

  Yao, Li ^a   Barontini, Marta ^d   Niederle, Bruno ^e   Jech, Marion ^a,g   Pfragner, Roswitha ^f   Dahia, Patricia L M ^a,b,c  

^a UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^b Mays Cancer Center at UT Health San Antonio   (United States)

^c University of Texas Health Science Center at San Antonio   (United States)

^d Centro de Investigaciones Endocrinologicas   (Argentina)

^e MEDICAL UNIVERSITY OF VIENNA   (Austria)

^f MEDICAL UNIVERSITY OF GRAZ   (Austria)

^g EVER Neuro Pharma   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ISOCITRATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE;

ARTICLE; CELL HYPOXIA; ENERGY METABOLISM; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; IDH1 GENE; IDH2 GENE; PARAGANGLIOMA; PHENOTYPE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SDHAF2 GENE;

EID: 77749270530     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-2245     Document Type: Article

References (22)

1. Gimenez-Roqueplo AP, Burnichon N, AmarL, Favier J, Jeunemaitre X, Plouin PF 2008 Recent advances in the genetics of phaeochromocytoma and functional paraganglioma. Clin Exp Pharmacol Physiol 35:376-379
2. Dahia PL 2006 Evolving concepts in pheochromocytoma and paraganglioma. Curr Opin Oncol 18:1-8
3. Dahia PLM, Ross K, Wright ME, Hayashida CY, Santagata S, Barontini M, Kung AL, Sanso G, Powers JF, Tischler AS, Hodin R, Heitritter S, Moore Jr F, Dluhy R, Sosa JA, Ocal IT, Benn DE, Marsh DJ, Robinson BG, Schneider K, Garber J, Arum SM, Korbonits M, Grossman A, Pigny P, Toledo SPA, Nosé V, Li C, Stiles CD 2005 A HIF1a regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet 1:72-80
4. Eisenhofer G, Huynh TT, Pacak K, Brouwers FM, Walther MM, Linehan WM, Munson PJ, Mannelli M, Goldstein DS, Elkahloun AG 2004 Distinct gene expression profiles in norepinephrine and epinephrine producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome. Endocr Relat Cancer 11:897-911
5. Gimenez-Roqueplo AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, Rötig A, Jeunemaitre X 2001 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
6. Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard 3rd CW, Cornelisse CJ, Devilee P, Devlin B 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287:848-851
7. Niemann S, Müller U 2000 Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26:268-270
8. Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Sköldberg F, Husebye ES, Eng C, Maher ER 2001 Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 69:49-54
9. Kaelin Jr WG 2002 Molecular basis of the VHL hereditary cancer syndrome. Nat Rev Cancer 2:673-682
10. Selak MA, Armour SM, MacKenzie ED, Boulahbel H, Watson DG, Mansfield KD, Pan Y, Simon MC, Thompson CB, Gottlieb E 2005 Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-α prolyl hydroxylase. Cancer Cell 7:77-85
11. Epstein AC, Gleadle JM, McNeill LA, Hewitson KS, O'Rourke J, Mole DR, Mukherji M, Metzen E, Wilson MI, Dhanda A, TianYM, MassonN,HamiltonDL,Jaakkola P, Barstead R,HodgkinJ,Maxwell PH, Pugh CW, Schofield CJ, Ratcliffe PJ 2001 C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation. Cell 107:43-54
12. Ivan M, Kondo K, Yang H, Kim W, Valiando J, Ohh M, Salic A, Asara JM, Lane WS, Kaelin Jr WG 2001 HIFα targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing. Science 292:464-468
13. Schofield CJ, Ratcliffe PJ 2005 Signalling hypoxia by HIF hydroxylases. Biochem Biophys Res Commun 338:617-626
14. Isaacs JS, Jung YJ, Mole DR, Lee S, Torres-Cabala C, Chung YL, Merino M, Trepel J, Zbar B, Toro J, Ratcliffe PJ, Linehan WM, Neckers L 2005 HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Cancer Cell 8:143-153
15. Bleeker FE, Lamba S, Leenstra S, Troost D, Hulsebos T, Vandertop WP, Frattini M, Molinari F, Knowles M, Cerrato A, Rodolfo M, Scarpa A, Felicioni L, Buttitta F, Malatesta S, Marchetti A, Bardelli A 2009 IDH1 mutations at residue p.R132 [IDH1(R132)] occur frequently in high-grade gliomas but not in other solid tumors.Hum Mutat 30:7-11
16. Parsons DW, Jones S, Zhang X, Lin JC, Leary RJ, Angenendt P, Mankoo P, Carter H, Siu IM, Gallia GL, Olivi A, McLendon R, Rasheed BA, Keir S, Nikolskaya T, Nikolsky Y, Busam DA, Tekleab H, Diaz Jr LA, Hartigan J, Smith DR, Strausberg RL, Marie SK, Shinjo SM, Yan H, Riggins GJ, Bigner DD, Karchin R, Papadopoulos N, Parmigiani G, Vogelstein B, Velculescu VE, Kinzler KW2008 An integrated genomic analysis of human glioblastoma multiforme. Science 321:1807-1812
17. Yan H, Parsons DW, Jin G, McLendon R, Rasheed BA, Yuan W, Kos I, Batinic-Haberle I, Jones S, Riggins GJ, Friedman H, Friedman A, Reardon D, Herndon J, Kinzler KW, Velculescu VE, Vogelstein B, Bigner DD 2009 IDH1 and IDH2 mutations in gliomas. N Engl J Med 360:765-773
18. Zhao S, Lin Y, Xu W, Jiang W, Zha Z, Wang P, Yu W, Li Z, Gong L, Peng Y, Ding J, Lei Q, Guan KL, Xiong Y 2009 Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1α. Science 324:261-265
19. Hao HX, Khalimonchuk O, Schraders M, Dephoure N, Bayley JP, Kunst H, Devilee P, Cremers CW, Schiffman JD, Bentz BG, Gygi SP, Winge DR, Kremer H, Rutter J 2009 SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 325:1139-1142
20. Astuti D, Hart-Holden N, Latif F, Lalloo F, Black GC, Lim C, Moran A,GrossmanAB,HodgsonSV, Freemont A,RamsdenR,EngC, Evans DG, Maher ER 2003 Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility. Clin Endocrinol (Oxf) 59:728-733
21. Gaal J, Burnichon N, Korpershoek E, Roncelin I, Bertherat J, Plouin PF, de Krijger RR, Gimenez-Roqueplo AP, Dinjens WN 2009 Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. J Clin Endocrinol Metab doi: 10.1210/jc.2009-2170
22. Dang L, White DW, Gross S, Bennett BD, Bittinger MA, Driggers EM, Fantin VR, Jang HG, Jin S, Keenan MC, Marks KM, Prins RM, WardPS,YenKE, LiauLM,Rabinowitz JD, Cantley LC,Thompson CB, Vander Heiden MG, Su SM 2009 Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 462:739-744