The genetic basis of pheochromocytoma

Frontiers of Hormone Research

Volumn 31, Issue , 2004, Pages 45-60

  Gimm, O ^a   Koch, C A ^a   Januszewicz, A ^a   Opocher, G ^a   Neumann, H P H ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 2442466197     PISSN: 03013073     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Article

References (114)

1. Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, Klein-Franke A, Klose P, Schmidt H, Maier-Woelfle M, Peczkowska M, Szmigielski C: Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 2002;346:1459-1466.
2. Gimm O: Multiple endocrine neoplasia type 2: Clinical aspects. Front Horm Res. Basel, Karger, 2001, vol 28, pp 103-130.
3. Casanova S, Rosenberg-Bourgin M, Farkas D, Calmettes C, Feingold N, Heshmati HM, Cohen R, Conte-Devolx B, Guillausseau PJ, Houdent C, et al: Phaeochromocytoma in multiple endocrine neoplasia type 2A: Survey of 100 cases. Clin Endocrinol (Oxf) 1993;38:531-537.
4. Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L, Ponder MA, Telenius H, Tunnacliffe A, Ponder BA: Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 1993;363:458-460.
5. Donis-Keller H, Dou S, Chi D, Carlson KM, Toshima K, Lairmore TC, Howe JR, Moley JF, Goodfellow P, Wells SA Jr: Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 1993;2:851-856.
6. Hofstra RM, Landsvater RM, Ceccherini I, Stulp RP, Stelwagen T, Luo Y, Pasini B, Hoppener JW, van Amstel HK, Romeo G, et al: A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 1994;367:375-376.
7. Eng C, Smith DP, Mulligan LM, Nagai MA, Healey CS, Ponder MA, Gardner E, Scheumann GF, Jackson CE, Tunnacliffe A, et al: Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum Mol Genet 1994;3/2:237-241.
8. Carlson KM, Dou S, Chi D, Scavarda N, Toshima K, Jackson CE, Wells SA Jr, Goodfellow PJ, Donis-Keller H: Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc Natl Acad Sci USA 1994;91:1579-1583.
9. Bolino A, Schuffenecker I, Luo Y, Seri M, Silengo M, Tocco T, Chabrier G, Houdent C, Murat A, Schlumberger M, et al: RET mutations in exons 13 and 14 of FMTC patients. Oncogene 1995;10:2415-2419.
10. Hofstra RM, Fattoruso O, Quadro L, Wu Y, Libroia A, Verga U, Colantuoni V, Buys CH: A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma. J Clin Endocrinol Metab 1997;82:4176-4178.
11. Berndt I, Reuter M, Saller B, Frank-Raue K, Groth P, Grussendorf M, Raue F, Ritter MM, Hoppner W: A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. J Clin Endocrinol Metab 1998;83:770-774.
12. Smith DP, Houghton C, Ponder BA: Germline mutation of RET codon 883 in two cases of de novo MEN 2B. Oncogene 1997;15:1213-1217.
13. Gimm O, Marsh DJ, Andrew SD, Frilling A, Dahia PL, Mulligan LM, Zajac JD, Robinson BG, Eng C: Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. J Clin Endocrinol Metab 1997;82:3902-3904.
14. Takahashi M, Ritz J, Cooper GM: Activation of a novel human transforming gene, ret, by DNA rearrangement. Cell 1985;42:581-588.
15. Kwok JB, Gardner E, Warner JP, Ponder BA, Mulligan LM: Structural analysis of the human ret proto-oncogene using exon trapping. Oncogene 1993;8:2575-2582.
16. Myers SM, Eng C, Ponder BA, Mulligan LM: Characterization of RET proto-oncogene 3′ splicing variants and polyadenylation sites: A novel C-terminus for RET. Oncogene 1995;11:2039-2045.
17. Le Hir H, Charlet-Berguerand N, Gimenez-Roqueplo A, Mannelli M, Plouin P, de Franciscis V, Thermes C: Relative expression of the RET9 and RET51 isoforms in human pheochromocytomas. Oncology 2000;58:311-318.
18. Le Hir H, Charlet-Berguerand N, de Franciscis V, Thermes C: 5′-End RET splicing: Absence of variants in normal tissues and intron retention in pheochromocytomas. Oncology 2002;63/1:84-91.
19. Huang SC, Koch CA, Vortmeyer AO, Pack SD, Lichtenauer UD, Mannan P, Lubensky IA, Chrousos GP, Gagel RF, Pacak K, Zhuang Z: Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas. Cancer Res 2000;60:6223-6226.
20. Takahashi M, Cooper GM: Ret transforming gene encodes a fusion protein homologous to tyrosine kinases. Mol Cell Biol 1987;7:1378-1385.
21. Treanor JJ, Goodman L, de Sauvage F, Stone DM, Poulsen KT, Beck CD, Gray C, Armanini MP, Pollock RA, Hefti F, Phillips HS, Goddard A, Moore MW, Buj-Bello A, Davies AM, Asai N, Takahashi M, Vandlen R, Henderson CE, Rosenthal A: Characterization of a multicomponent receptor for GDNF. Nature 1996;382:80-83.
22. Trupp M, Arenas E, Fainzilber M, Nilsson AS, Sieber BA, Grigoriou M, Kilkenny C, Salazar-Grueso E, Pachnis V, Arumae U, et al: Functional receptor for GDNF encoded by the c-ret protooncogene. Nature 1996;381:785-788.
23. Durbec P, Marcos-Gutierrez CV, Kilkenny C, Grigoriou M, Wartiowaara K, Suvanto P, Smith D, Ponder B, Costantini F, Saarma M, et al: GDNF signalling through the Ret receptor tyrosine kinase. Nature 1996;381:789-793.
24. Kotzbauer PT, Lampe PA, Heuckeroth RO, Golden JP, Creedon DJ, Johnson EM Jr, Milbrandt J: Neurturin, a relative of glial-cell-line-derived neurotrophic factor. Nature 1996;384:467-470.
25. Milbrandt J, de Sauvage FJ, Fahrner TJ, Baloh RH, Leitner ML, Tansey MG, Lampe PA, Heuckeroth RO, Kotzbauer PT, Simburger KS, Golden JP, Davies JA, Vejsada R, Kato AC, Hynes M, Sherman D, Nishimura M, Wang LC, Vandlen R, Moffat B, Klein RD, Poulsen K, Gray C, Garces A, Johnson EM Jr, et al: Persephin, a novel neurotrophic factor related to GDNF and neurturin. Neuron 1998;20/2:245-253.
26. Baloh RH, Tansey MG, Lampe PA, Fahrner TJ, Enomoto H, Simburger KS, Leitner ML, Araki T, Johnson EM Jr, Milbrandt J: Artemin, a novel member of the GDNF ligand family, supports peripheral and central neurons and signals through the GFRα3-RET receptor complex. Neuron 1998;21:1291-1302.
27. Masure S, Geerts H, Cik M, Hoefnagel E, Van Den Kieboom G, Tuytelaars A, Harris S, Lesage AS, Leysen JE, Van Der Helm L, Verhasselt P, Yon J, Gordon RD: Enovin, a member of the glial celllinederived neurotrophic factor (GDNF) family with growth promoting activity on neuronal cells. Existence and tissue-specific expression of different splice variants. Eur J Biochem 1999;266:892-902.
28. Jing S, Wen D, Yu Y, Holst PL, Luo Y, Fang M, Tamir R, Antonio L, Hu Z, Cupples R, Louis JC, Hu S, Altrock BW, Fox GM: GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-α, a novel receptor for GDNF. Cell 1996;85:1113-1124.
29. Jing S, Yu Y, Fang M, Hu Z, Holst PL, Boone T, Delaney J, Schultz H, Zhou R, Fox GM: GFRα-2 and GFRα-3 are two new receptors for ligands of the GDNF family. J Biol Chem 1997;272:33111-33117.
30. Worby CA, Vega QC, Chao HH, Seasholtz AF, Thompson RC, Dixon JE: Identification and characterization of GFRα-3, a novel Co-receptor belonging to the glial cell line-derived neurotrophic receptor family. J Biol Chem 1998;273:3502-3508.
31. Enokido Y, de Sauvage F, Hongo JA, Ninkina N, Rosenthal A, Buchman VL, Davies AM: GFRα-4 and the tyrosine kinase Ret form a functional receptor complex for persephin. Curr Biol 1998;8: 1019-1022.
32. Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, van Amstel HK, Lips CJ, Nishisho I, Takai SI, Marsh DJ, Robinson BG, Frank-Raue K, Raue F, Xue F, Noll WW, Romei C, Pacini F, Fink M, Niederle B, Zedenius J, Nordenskjold M, Komminoth P, Hendy GN, Gharib H, Thibodeau SN, Lacroix A, Frilling A, Ponder BA, Mulligan LM: The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA 1996;276:1575-1579.
33. Frank-Raue K, Hoppner W, Frilling A, Kotzerke J, Dralle H, Haase R, Mann K, Seif F, Kirchner R, Rendl J, Deckart HF, Ritter MM, Hampel R, Klempa J, Scholz GH, Raue F: Mutations of the ret protooncogene in German multiple endocrine neoplasia families: Relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group. J Clin Endocrinol Metab 1996;81:1780-1783.
34. Schuffenecker I, Virally-Monod M, Brohet R, Goldgar D, Conte-Devolx B, Leclerc L, Chabre O, Boneu A, Caron J, Houdent C, Modigliani E, Rohmer V, Schlumberger M, Eng C, Guillausseau PJ, Lenoir GM: Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. Groupe d'Etude des Tumeurs à Calcitonine. J Clin Endocrinol Metab 1998;83:487-491.
35. Asai N, Iwashita T, Matsuyama M, Takahashi M: Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations. Mol Cell Biol 1995;15:1613-1619.
36. Borrello MG, Smith DP, Pasini B, Bongarzone I, Greco A, Lorenzo MJ, Arighi E, Miranda C, Eng C, Alberti L, et al: RET activation by germline MEN2A and MEN2B mutations. Oncogene 1995;11:2419-2427.
37. Santoro M, Carlomagno F, Romano A, Bottaro DP, Dathan NA, Grieco M, Fusco A, Vecchio G, Matoskova B, Kraus MH, et al: Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science 1995;267:381-383.
38. Nilsson O, Tisell LE, Jansson S, Ahlman H, Gimm O, Eng C: Adrenal and extra-adrenal pheochromocytomas in a family with germline RET V804L mutation. JAMA 1999;281:1587-1588.
39. Miyauchi A, Futami H, Hai N, Yokozawa T, Kuma K, Aoki N, Kosugi S, Sugano K, Yamaguchi K: Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation. Jpn J Cancer Res 1999;90:1-5.
40. Menko FH, van der Luijt RB, de Valk IA, Toorians AW, Sepers JM, van Diest PJ, Lips CJ: Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918. J Clin Endocrinol Metab 2002;87:393-397.
41. Pasini A, Geneste O, Legrand P, Schlumberger M, Rossel M, Fournier L, Rudkin BB, Schuffenecker I, Lenoir GM, Billaud M: Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. Oncogene 1997;15:393-402.
42. Carlomagno F, Salvatore G, Cirafici AM, De Vita G, Melillo RM, de Franciscis V, Billaud M, Fusco A, Santoro M: The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype. Cancer Res 1997;57:391-395.
43. Iwashita T, Kato M, Murakami H, Asai N, Ishiguro Y, Ito S, Iwata Y, Kawai K, Asai M, Kurokawa K, Kajita H, Takahashi M: Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma. Oncogene 1999;18:3919-3922.
44. Nunes AB, Ezabella MC, Pereira AC, Krieger JE, Toledo SP: A novel Val(648)Ile substitution in RET protooncogene observed in a Cys(634)Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma. J Clin Endocrinol Metab 2002;87:5658-5661.
45. Marsh DJ, Zheng Z, Arnold A, Andrew SD, Learoyd D, Frilling A, Komminoth P, Neumann HP, Ponder BA, Rollins BJ, Shapiro GI, Robinson BG, Mulligan LM, Eng C: Mutation analysis of glial cell line-derived neurotrophic factor, a ligand for an RET/coreceptor complex, in multiple endocrine neoplasia type 2 and sporadic neuroendocrine tumors. J Clin Endocrinol Metab 1997;82:3025-3028.
46. Edstrom E, Frisk T, Farnebo F, Hoog A, Backdahl M, Larsson C: Expression analysis of RET and the GDNF/GFRα-1 and NTN/GFRα-2 ligand complexes in pheochromocytomas and paragangliomas. Int J Mol Med 2000;6:469-474.
47. Mulligan LM, Gardner E, Smith BA, Mathew CG, Ponder BA: Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2. Genes Chromosomes Cancer 1993;6/3: 166-177.
48. Koch CA, Huang SC, Zhuang Z, Stolle C, Azumi N, Chrousos GP, Vortmeyer AO, Pacak K: Somatic VHL gene deletion and point mutation in MEN 2A-associated pheochromocytoma. Oncogene 2002;21:479-482.
49. Eng C, Crossey PA, Mulligan LM, Healey CS, Houghton C, Prowse A, Chew SL, Dahia PL, O'Riordan JL, Toledo SP, et al: Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. J Med Genet 1995;32:934-937.
50. Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT, Ferguson-Smith MA: Clinical features and natural history of von Hippel-Lindau disease. Q J Med 1990;77:1151-1163.
51. Neumann HP, Wiestler OD: Clustering of features and genetics of von Hippel-Lindau syndrome. Lancet 1991;338:258.
52. Maddock IR, Moran A, Maher ER, Teare MD, Norman A, Payne SJ, Whitehouse R, Dodd C, Lavin M, Hartley N, Super M, Evans DG: A genetic register for von Hippel-Lindau disease. J Med Genet 1996;33:120-127.
53. Maher ER, Kaelin WG Jr: von Hippel-Lindau disease. Medicine (Baltimore) 1997;76:381-391.
54. Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L, et al: Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993;260:1317-1320.
55. Kaelin WG Jr: Molecular basis of the VHL hereditary cancer syndrome. Nat Rev Cancer 2002;2: 673-682.
56. Duan DR, Pause A, Burgess WH, Aso T, Chen DY, Garrett KP, Conaway RC, Conaway JW, Linehan WM, Klausner RD: Inhibition of transcription elongation by the VHL tumor suppressor protein. Science 1995;269:1402-1406.
57. Kibel A, Iliopoulos O, DeCaprio JA, Kaelin WG Jr: Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C. Science 1995;269:1444-1446.
58. Pause A, Lee S, Worrell RA, Chen DY, Burgess WH, Linehan WM, Klausner RD: The von HippelLindau tumor-suppressor gene product forms a stable complex with human CUL-2, a member of the Cdc53 family of proteins. Proc Natl Acad Sci USA 1997;94:2156-2161.
59. Lonergan KM, Iliopoulos O, Ohh M, Kamura T, Conaway RC, Conaway JW, Kaelin WG Jr: Regulation of hypoxia-inducible mRNAs by the von Hippel-Lindau tumor suppressor protein requires binding to complexes containing elongins B/C and Cul2. Mol Cell Biol 1998;18:732-741.
60. Mukhopadhyay D, Knebelmann B, Cohen HT, Ananth S, Sukhatme VP: The von Hippel-Lindau tumor suppressor gene product interacts with Sp1 to repress vascular endothelial growth factor promoter activity. Mol Cell Biol 1997;17:5629-5639.
61. Crossey PA, Foster K, Richards FM, Phipps ME, Latif F, Tory K, Jones MH, Bentley E, Kumar R, Lerman MI, et al: Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: Analysis of allele loss in VHL tumours. Hum Genet 1994;93/1:53-58.
62. Knudson AG Jr: Mutation and cancer: Statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971;68:820-823.
63. Bender BU, Gutsche M, Glasker S, Muller B, Kirste G, Eng C, Neumann HP: Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas. J Clin Endocrinol Metab 2000;85:4568-4574.
64. Lui WO, Chen J, Glasker S, Bender BU, Madura C, Khoo SK, Kort E, Larsson C, Neumann HP, Teh BT: Selective loss of chromosome 11 in pheochromocytomas associated with the VHL syndrome. Oncogene 2002;21:1117-1122.
65. Herman JG, Latif F, Weng Y, Lerman MI, Zbar B, Liu S, Samid D, Duan DS, Gnarra JR, Linehan WM, et al: Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma. Proc Natl Acad Sci USA 1994;91:9700-9704.
66. Prowse AH, Webster AR, Richards FM, Richard S, Olschwang S, Resche F, Affara NA, Maher ER: Somatic inactivation of the VHL gene in von Hippel-Lindau disease tumors. Am J Hum Genet 1997;60:765-771.
67. Crossey PA, Richards FM, Foster K, Green JS, Prowse A, Latif F, Lerman MI, Zbar B, Affara NA, Ferguson-Smith MA, et al: Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Mol Genet 1994;3: 1303-1308.
68. Chen F, Kishida T, Yao M, Hustad T, Glavac D, Dean M, Gnarra JR, Orcutt ML, Duh FM, Glenn G, et al: Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype. Hum Mutat 1995;5/1:66-75.
69. Duerr EM, Gimm O, Neuberg DS, Kum JB, Clifford SC, Toledo SP, Maher ER, Dahia PL, Eng C: Differences in allelic distribution of two polymorphisms in the VHL-associated gene CUL2 in pheochromocytoma patients without somatic CUL2 mutations. J Clin Endocrinol Metab 1999;84:3207-3211.
70. von Deimling A, Krone W, Menon AG: Neurofibromatosis type 1: Pathology, clinical features and molecular genetics. Brain Pathol 1995;5/2:153-162.
71. Riccardi VM: Neurofibromatosis: Past, present, and future. N Engl J Med 1991;324:1283-1285.
72. Walther MM, Herring J, Enquist E, Keiser HR, Linehan WM: von Recklinghausen's disease and pheochromocytomas. J Urol 1999;162:1582-1586.
73. Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA, et al: Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990;62/1:187-192.
74. Cawthon RM, Weiss R, Xu GF, Viskochil D, Culver M, Stevens J, Robertson M, Dunn D, Gesteland R, O'Connell P, et al: A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 1990;62/1:193-201.
75. Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL, et al: Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients. Science 1990;249:181-186.
76. White R, O'Connell P: Identification and characterization of the gene for neurofibromatosis type 1. Curr Opin Genet Dev 1991;1/1:15-19.
77. Skuse GR, Cappione AJ: RNA processing and clinical variability in neurofibromatosis type I (NF1). Hum Mol Genet 1997;6:1707-1712.
78. Upadhyaya M, Shaw DJ, Harper PS: Molecular basis of neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 gene. Hum Mutat 1994;4/2:83-101.
79. Shen MH, Harper PS, Upadhyaya M: Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet 1996;33/1:2-17.
80. Fang LJ, Vidaud D, Vidaud M, Thirion JP: Identification and characterization of four novel large deletions in the human neurofibromatosis type 1 (NF1) gene. Hum Mutat 2001;18:549-550.
81. Jacks T, Shih TS, Schmitt EM, Bronson RT, Bernards A, Weinberg RA: Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nat Genet 1994;7:353-361.
82. Xu W, Mulligan LM, Ponder MA, Liu L, Smith BA, Mathew CG, Ponder BA: Loss of NF1 alleles in phaeochromocytomas from patients with type I neurofibromatosis. Genes Chromosomes Cancer 1992;4:337-342.
83. Gutmann DH, Cole JL, Stone WJ, Ponder BA, Collins FS: Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I. Genes Chromosomes Cancer 1994;10/1: 55-58.
84. Gutmann DH, Geist RT, Rose K, Wallin G, Moley JF: Loss of neurofibromatosis type I (NF1) gene expression in pheochromocytomas from patients without NF1. Genes Chromosomes Cancer 1995;13/2:104-109.
85. Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW 3rd, Cornelisse CJ, Devilee P, Devlin B: Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000;287:848-851.
86. Gimm O, Armanios M, Dziema H, Neumann HP, Eng C: Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res 2000;60:6822-6825.
87. Astuti D, Douglas F, Lennard TW, Aligianis IA, Woodward ER, Evans DG, Eng C, Latif F, Maher ER: Germline SDHD mutation in familial phaeochromocytoma. Lancet 2001;357:1181-1182.
88. Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Skoldberg F, Husebye ES, Eng C, Maher ER: Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 2001;69/1:49-54.
89. Niemann S, Muller U: Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 2000;26/3:268-270.
90. Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Pequignot E, Munnich A, Rotig A: Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 1995;11/2:144-149.
91. Birch-Machin MA, Taylor RW, Cochran B, Ackrell BA, Turnbull DM: Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene. Ann Neurol 2000;48:330-335.
92. Hirawake H, Taniwaki M, Tamura A, Kojima S, Kita K: Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23. Cytogenet Cell Genet 1997;79/1-2:132-138.
93. Hirawake H, Taniwaki M, Tamura A, Amino H, Tomitsuka E, Kita K: Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinateubiquinone oxidoreductase. Biochim Biophys Acta 1999;1412/3:295-300.
94. Gimenez-Roqueplo AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, Rotig A, Jeunemaitre X: 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 2001;69:1186-1197.
95. Leckschat S, Ream-Robinson D, Scheffler IE: The gene for the iron sulfur protein of succinate dehydrogenase (SDH-IP) maps to human chromosome 1p35-36.1. Somat Cell Mol Genet 1993;19:505-511.
96. Au HC, Ream-Robinson D, Bellew LA, Broomfield PL, Saghbini M, Scheffler IE: Structural organization of the gene encoding the human iron-sulfur subunit of succinate dehydrogenase. Gene 1995;159/2:249-253.
97. Elbehti-Green A, Au HC, Mascarello JT, Ream-Robinson D, Scheffler IE: Characterization of the human SDHC gene encoding of the integral membrane proteins of succinate-quinone oxidoreductase in mitochondria. Gene 1998;213/1-2:133-140.
98. Le Hir H, Colucci-D'Amato LG, Charlet-Berguerand N, Plouin PF, Bertagna X, de Franciscis V, Thermes C: High levels of tyrosine phosphorylated proto-ret in sporadic phenochromocytomas. Cancer Res 2000;60:1365-1370.
99. Lindor NM, Honchel R, Khosla S, Thibodeau SN: Mutations in the RET protooncogene in sporadic pheochromocytomas. J Clin Endocrinol Metab 1995;80:627-629.
100. Komminoth P, Roth J, Muletta-Feurer S, Saremaslani P, Seelentag WK, Heitz PU: RET protooncogene point mutations in sporadic neuroendocrine tumors. J Clin Endocrinol Metab 1996;81:2041-2046.
101. Rodien P, Jeunemaitre X, Dumont C, Beldjord C, Plouin PF: Genetic alterations of the RET protooncogene in familial and sporadic pheochromocytomas. Horm Res 1997;47/4-6:263-268.
102. van der Harst E, de Krijger RR, Bruining HA, Lamberts SW, Bonjer HJ, Dinjes WN, Proye C, Koper JW, Bosman FT, Roth J, Heitz PU, Komminoth P: Prognostic value of RET proto-oncogene point mutations in malignant and benign, sporadic phaeochromocytomas. Int J Cancer 1998;79:537-540.
103. Woodward ER, Eng C, McMahon R, Voutilainen R, Affara NA, Ponder BA, Maher ER: Genetic predisposition to phaeochromocytoma: Analysis of candidate genes GDNF, RET and VHL. Hum Mol Genet 1997;6:1051-1056.
104. Dahia PL, Toledo SP, Mulligan LM, Maher ER, Grossman AB, Eng C: Mutation analysis of glial cell line-derived neurotrophic factor (GDNF), a ligand for the RET/GDNF receptor alpha complex, in sporadic phaeochromocytomas. Cancer Res 1997;57:310-313.
105. Powers JF, Tsokas P, Tischler AS: The ret-activating ligand GDNF is differentiative and not mitogenic for normal and neoplastic human chromaffin cells in vitro. Endocr Pathol 1998;9:325-331.
106. Smith-Hicks CL, Sizer KC, Powers JF, Tischler AS, Costantini F: C-cell hyperplasia, pheochromocytoma and sympathoadrenal malformation in a mouse model of multiple endocrine neoplasia type 2B. EMBO J 2000;19:612-622.
107. Michiels FM, Chappuis S, Caillou B, Pasini A, Talbot M, Monier R, Lenoir GM, Feunteun J, Billaud M: Development of medullary thyroid carcinoma in transgenic mice expressing the RET protooncogene altered by a multiple endocrine neoplasia type 2A mutation. Proc Natl Acad Sci USA 1997;94:3330-3335.
108. Kawai K, Iwashita T, Murakami H, Hiraiwa N, Yoshiki A, Kusakabe M, Ono K, Iida K, Nakayama A, Takahashi M: Tissue-specific carcinogenesis in transgenic mice expressing the RET proto-oncogene with a multiple endocrine neoplasia type 2A mutation. Cancer Res 2000;60:5254-5260.
109. Hofstra RM, Stelwagen T, Stulp RP, de Jong D, Hulsbeek M, Kamsteeg EJ, van den Berg A, Landsvater RM, Vermey A, Molenaar WM, Lips CJ, Buys CH: Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases. J Clin Endocrinol Metab 1996;81:2881-2884.
110. Maher ER, Eng C: The pressure rises: Update on the genetics of phaeochromocytoma. Hum Mol Genet 2002;11:2347-2354.
111. Yoshimoto T, Naruse M, Zeng Z, Nishikawa T, Kasajima T, Toma H, Yamamori S, Matsumoto H, Tanabe A, Naruse K, Demura H: The relatively high frequency of p53 gene mutations in multiple and malignant phaeochromocytomas. J Endocrinol 1998;159/2:247-255.
112. Vargas MP, Zhuang Z, Wang C, Vortmeyer A, Linehan WM, Merino MJ: Loss of heterozygosity on the short arm of chromosomes 1 and 3 in sporadic pheochromocytoma and extra-adrenal paraganglioma. Hum Pathol 1997;28:411-415.
113. Benn DE, Dwight T, Richardson AL, Delbridge L, Bambach CP, Stowasser M, Gordon RD, Marsh DJ, Robinson BG: Sporadic and familial pheochromocytomas are associated with loss of at least two discrete intervals on chromosome 1p. Cancer Res 2000;60:7048-7051.
114. Koch CA, Pacak K, Chrousos GP: The molecular pathogenesis of hereditary and sporadic adrenocortical and adrenomedullary tumors. J Clin Endocrinol Metab 2002;87:1-18.