No evidence for involvement of SDHD in neuroblastoma pathogenesis

BMC Cancer

Volumn 4, Issue , 2004, Pages

  De Preter, Katleen ^a   Vandesompele, Jo ^a   Hoebeeck, Jasmien ^a   Vandenbroecke, Caroline ^a   Smet, Jöel ^a   Nuyts, Annick ^a   Laureys, Geneviève ^a   Combaret, Valérie ^b   Van Roy, Nadine ^a   Roels, Frank ^a   Van Coster, Rudy ^a   Praet, Marleen ^a   De Paepe, Anne ^a   Speleman, Frank ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b CENTRE LÉON BÉRARD   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEOME; SUCCINATE DEHYDROGENASE D; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG; DNA; MEMBRANE PROTEIN; RNA; SDHD PROTEIN, HUMAN; SUCCINATE DEHYDROGENASE;

ARTICLE; CANCER CELL CULTURE; CARCINOGENESIS; CONTROLLED STUDY; EXON; FAMILIAL CANCER; GENE DELETION; GENE EXPRESSION PROFILING; GENE LOSS; GENE MUTATION; GENETIC SCREENING; GENOME; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOBLOTTING; MAJOR CLINICAL STUDY; METHYLATION; MITOCHONDRION; NEUROBLAST; NEUROBLASTOMA; PARAGANGLIOMA; PHENOTYPE; PROMOTER REGION; PROTEIN ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; STOP CODON; CHROMOSOME 11; GENETICS; ISOLATION AND PURIFICATION; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; TUMOR CELL LINE; ULTRASTRUCTURE;

BASE SEQUENCE; CELL LINE, TUMOR; CHROMOSOMES, HUMAN, PAIR 11; DNA, NEOPLASM; HUMANS; MEMBRANE PROTEINS; METHYLATION; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; NEUROBLASTOMA; RNA, MESSENGER; RNA, NEOPLASM; SUCCINATE DEHYDROGENASE;

EID: 13144272322     PISSN: 14712407     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2407-4-55     Document Type: Article

References (68)

1. Cooper MJ, Hutchins GM, Cohen PS, Helman LJ, Mennie RJ, Israel MA: Human neuroblastoma tumor cell lines correspond to the arrested differentiation of chromaffin adrenal medullary neuroblasts. Cell Growth Differ 1990, 1:149-59.
2. Bown N, Cotterill S, Lastowska M, O'Neill S, Pearson AD, Plantaz D, Meddeb M, Danglot G, Brinkschmidt C, Christiansen H, et al. Gain of chromosome arm 17q and adverse outcome in patients with neuroblastoma. N Engl J Med 1999, 340:1954-61.
3. Maris JM, Matthay KK: Molecular biology of neuroblastoma. J Clin Oncol 1999, 17:2264-79.
4. Brodeur GM: Neuroblastoma: biological insights into a clinical enigma. Nat Rev Cancer 2003, 3:203-16.
5. Plantaz D, Vandesompele J, Van Roy N, Lastowska M, Bown N, Combaret V, Favrot MC, Delattre O, Michon J, Benard J, et al.: Comparative genomic hybridization (CGH) analysis of stage 4 neuroblastoma reveals high frequency of 11q deletion in tumors lacking MYCN amplification. Int J Cancer 2001, 91:680-6.
6. Vandesompele J, Van Roy N, Van Gele M, Laureys G, Ambros P, Heimann P, Devalck C, Schuuring E, Brock P, Otten J, et al.: Genetic heterogeneity of neuroblastoma studied by comparative genomic hybridization. Genes Chromosomes Cancer 1998, 23:141-52.
7. Vandesompele J, Speleman F, Van Roy N, Laureys G, Brinskchmidt C, Christiansen H, Lampert F, Lastowska M, Bown N, Pearson A, et al.: Multicentre analysis of patterns of DNA gains and losses in 204 neuroblastoma tumors: how many genetic subgroups are there? Med Pediatr Oncol 2001, 36:5-10.
8. Luttikhuis ME, Powell JE, Rees SA, Genus T, Chughtai S, Ramani P, Mann JR, McConville CM: Neuroblastomas with chromosome 11q loss and single copy MYCN comprise a biologically distinct group of tumours with adverse prognosis. Br J Cancer 2001, 85: 31-7.
9. Breen CJ, O'Meara A, McDermott M, Mullarkey M, Stallings RL: Coordinate deletion of chromosome 3p and 11q in neuroblastoma detected by comparative genomic hybridization. Cancer Genet Cytogenet 2000, 120:44-9.
10. Srivatsan ES, Murali V, Seeger RC: Loss of heterozygosity for alleles on chromosomes 11q and 14q in neuroblastoma. Prog Clin Biol Res 1991, 366:91-8.
11. Maris JM, Guo C, White PS, Hogarty MD, Thompson PM, Stram DO, Gerbing R, Matthay KK, Seeger RC, Brodeur GM: Allelic deletion at chromosome bands 11q14-23 is common in neuroblastoma. Med Pediatr Oncol 2001, 36:24-7.
12. Vandesompele J, Baudis M, De Preter K, Van Roy N, Ambros P, Bown N, Combaret V, Lastowska M, Nicholson JC, O'Meara A, et al.: Unequivocal delineation of clinico-genetic subgroups and identification of a long term survivor signature for neuroblastoma. J Clin Oncol in press.
13. Spitz R, Hero B, Ernestus K, Berthold F: Deletions in chromosome arms 3p and 11q are new prognostic markers in localized and 4s neuroblastoma. Clin Cancer Res 2003, 9:52-8.
14. Bader SA, Fasching C, Brodeur GM, Stanbridge EJ: Dissociation of suppression of tumorigenicity and differentiation in vitro effected by transfer of single human chromosomes into human neuroblastoma cells. Cell Growth Differ 1991, 2:245-55.
15. Guo C, White PS, Hogarty MD, Brodeur GM, Gerbing R, Stram DO, Maris JM: Deletion of 11q23 is a frequent event in the evolution of MYCN single-copy high-risk neuroblastomas. Med Pediatr Oncol 2000, 35:544-6.
16. Guo C, White PS, Weiss MJ, Hogarty MD, Thompson PM, Stram DO, Gerbing R, Matthay KK, Seeger RC, Brodeur GM, et al.: Allelic deletion at 11q23 is common in MYCN single copy neuroblastomas. Oncogene 1999, 18:4948-57.
17. 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 succinate-ubiquinone oxidoreductase. Biochim Biophys Acta 1999, 1412:295-300.
18. 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, 79:132-8.
19. Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, et al.: Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000, 287:848-51.
20. Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, et al.: Germline mutations in nonsyndromic pheochromocytoma. N Engl J Med 2002, 346:1459-66.
21. 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: 822-5.
22. Badenhop RF, Cherian S, Lord RS, Baysal BE, Taschner PE, Schofield PR: Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. Genes Chromosomes Cancer 2001, 31:255-63.
23. 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, 69:1186-97.
24. Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery WH 3rd, Myers EN, et al.: Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Genet 2002, 39:178-83.
25. Aguiar RC, Cox G, Pomeroy SL, Dahia PL: Analysis of the SDHD gene, the susceptibility gene for familial paraganglioma syndrome (PGL1), in pheochromocytomas. J Clin Endocrinol Metab 2001, 86:2890-4.
26. Masuoka J, Brandner S, Paulus W, Soffer D, Vital A, Chimelli L, Jouvet A, Yonekawa Y, Kleihues P, Ohgaki H: Germline SDHD mutation in paraganglioma of the spinal cord. Oncogene 2001, 20: 084-6.
27. Kytola S, Nord B, Elder EE, Carling T, Kjellman M, Cedermark B, Juhlin C, Hoog A, Isola J, Larsson C: Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas. Genes Chromosomes Cancer 2002, 34:325-32.
28. Taschner PE, Jansen JC, Baysal BE, Bosch A, Rosenberg EH, Brocker-Vriends AH, van Der Mey AG, van Ommen GJ, Cornelisse CJ, Devilee P: Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer 2001, 31:274-81.
29. Jogi A, Ora I, Nilsson H, Lindeheim A, Makino Y, Poellinger L, Axelson H, Pahlman S: Hypoxia alters gene expression in human neuroblastoma cells toward an immature and neural crest-like phenotype. Proc Natl Acad Sci U S A 2002, 99:7021-6.
30. Schleiermacher G, Janoueix-Lerosey I, Combaret V, Derre J, Couturier J, Aurias A, Delattre O: Combined 24-color karyotyping and comparative genomic hybridization analysis indicates predominant rearrangements of early replicating chromosome regions in neuroblastoma. Cancer Genet Cytogenet 2003, 141:32-42.
31. Van Roy N, Van Limbergen H, Vandesompele J, Van Gele M, Poppe B, Salwen H, Laureys G, Manoel N, De Paepe A, Speleman F: Combined M-FISH and CGH analysis allows comprehensive description of genetic alterations in neuroblastoma cell lines. Genes Chromosomes Cancer 2001, 32:126-35.
32. Van Roy N, Jauch A, Van Gele M, Laureys G, Versteeg R, De Paepe A, Cremer T, Speleman F: Comparative genomic hybridization analysis of human neuroblastomas: detection of distal 1p deletions and further molecular genetic characterization of neuroblastoma cell lines. Cancer Genet Cytogenet 1997, 97:135-42.
33. De Preter K, Speleman F, Combaret V, Lunec J, Laureys G, Eussen BH, Francotte N, Board J, Pearson AD, De Paepe A, et al.: Quantification of MYCN, DDX1, and NAG gene copy number in neuroblastoma using a real-time quantitative PCR assay. Mod Pathol 2002, 15:159-66.
34. Van Roy N, Laureys G, Cheng NC, Willem P, Opdenakker G, Versteeg R, Speleman F: 1;17 translocations and other chromosome 17 rearrangements in human primary neuroblastoma tumors and cell lines. Genes Chromosomes Cancer 1994, 10:103-14.
35. Devilee P, Cleton-Jansen AM, Cornelisse CJ: Ever since Knudson. Trends Genet 2001, 17:569-73.
36. Herman JG, Graff JR, Myohanen S, Nelkin BD, Baylin SB: Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci U S A 1996, 93:9821-6.
37. Li LC, Dahiya R: MethPrimer: designing primers for methylation PCRs. Bioinformatics 2002, 18:1427-31.
38. Vandesompele J, De Paepe A, Speleman F: Elimination of primerdimer artifacts and genomic coamplification using a two-step SYBR green I real-time RT-PCR. Anal Biochem 2002, 303:95-8.
39. De Preter K, Vandesompele J, Heimann P, Kockx MM, Van Gele M, Hoebeeck J, De Smet E, Demarche M, Laureys G, Van Roy N, et al.: Application of laser capture microdissection in genetic analysis of neuroblastoma and neuroblastoma precursor cells. Cancer Lett 2003, 197:53-61.
40. Vandesompele J, De Preter K, Pattyn F, Poppe B, Van Roy N, De Paepe A, Speleman F: Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol 2002, 3:RESEARCH0034:1-11.
41. Rustin P, Chretien D, Bourgeron T, Gerard B, Rotig A, Saudubray JM, Munnich A: Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 1994, 228: 5-51.
42. Van Coster R, Smet J, George E, De Meirleir L, Seneca S, Van Hove J, Sebire G, Verhelst H, De Bleecker J, Van Vlem B, et al.: Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects. Pediatr Res 2001, 50:658-65.
43. Cascon A, Ruiz-Llorente S, Cebrian A, Leton R, Telleria D, Benitez J, Robledo M: G12S and H50R variations are polymorphisms in the SDHD gene. Genes Chromosomes Cancer 2003, 37:220-221.
44. Cascon A, Ruiz-Llorente S, Cebrian A, Telleria D, Rivero JC, Diez JJ, Lopez-Ibarra PJ, Jaunsolo MA, Benitez J, Robledo M: Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma. Eur J Hum Genet 2002, 10:457-61.
45. Lima J, Maximo V, Soares P, Sobrinho-Simoes M: Alterations of the SDHD gene locus in midgut carcinoids. Genes Chromosomes Cancer 2003, 36:424.
46. Dannenberg H, Dinjens WN, Abbou M, Van Urk H, Pauw BK, Mouwen D, Mooi WJ, de Krijger RR: Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma. Clin Cancer Res 2002, 8: 061-6.
47. Hui AB, Lo KW, Chan SY, Kwong J, Chan AS, Huang DP: Absence of SDHD mutations in primary nasopharyngeal carcinomas. Int J Cancer 2002, 97:875-7.
48. Douwes Dekker PB, Hogendoorn PC, Kuipers-Dijkshoorn N, Prins FA, van Duinen SG, Taschner PE, van der Mey AG, Cornelisse CJ: SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology. J Pathol 2003, 201:480-6.
49. Takahashi H, Ikuta F, Tsuchida T, Tanaka R: Ultrastructural alterations of neuronal cells in a brain stem ganglioglioma. Acta Neuropathol (Berl) 1987, 74:307-12.
50. Taxy JB: Electron microscopy in the diagnosis of neuroblastoma. Arch Pathol Lab Med 1980, 104:355-60.
51. Staley NA, Poleksy HF, Bensch KG: Fine structural and biochemical studies on the malignant ganglioneuroma. J Neuropathol Exp Neurol 1967, 26:634-53.
52. Mackay B, Masse SR, King OY, Butler J: Diagnosis of neuroblastoma by electron microscopy of bone marrow aspirates. Pediatrics 1975, 56:1045-9.
53. Misugi K, Misugi N, Newton WA Jr: Fine structural study of neuroblastoma, ganglioneuroblastoma, and pheochromocytoma. Arch Pathol 1968, 86:160-70.
54. Yankovskaya V, Horsefield R, Tornroth S, Luna-Chavez C, Miyoshi H, Leger C, Byrne B, Cecchini G, Iwata S: Architecture of succinate dehydrogenase and reactive oxygen species generation. Science 2003, 299:700-4.
55. Habano W, Sugai T, Nakamura S, Uesugi N, Higuchi T, Terashima M, Horiuchi S: Reduced expression and loss of heterozygosity of the SDHD gene in colorectal and gastric cancer. Oncol Rep 2003, 10:1375-80.
56. Hackenbrock CR, Rehn TG, Weinbach EC, Lemasters JJ: Oxidative phosphorylation and ultrastructural transformation in mitochondria in the intact ascites tumor cell. J Cell Biol 1971, 51:123-37.
57. Ord MJ, Smith RA: Correlation of mitochondrial form and function in vivo: microinjection of substrate and nucleotides. Cell Tissue Res 1982, 227:129-37.
58. Gottlieb E, Armour SM, Harris MH, Thompson CB: Mitochondrial membrane potential regulates matrix configuration and cytochrome c release during apoptosis. Cell Death Differ 2003, 10:709-17.
59. van Loo G, Saelens X, van Gurp M, MacFarlane M, Martin SJ, Vandenabeele P: The role of mitochondrial factors in apoptosis: a Russian roulette with more than one bullet. Cell Death Differ 2002, 9:1031-42.
60. Ravagnan L, Roumier T, Kroemer G: Mitochondria, the killer organelles and their weapons. J Cell Physiol 2002, 192: 31-7.
61. Pietenpol JA, Bohlander SK, Sato Y, Papadopoulos N, Liu B, Friedman C, Trask BJ, Roberts JM, Kinzler KW, Rowley JD, et al.: Assignment of the human p27Kip1 gene to 12p13 and its analysis in leukemias. Cancer Res 1995, 55:1206-10.
62. Fero ML, Randel E, Gurley KE, Roberts JM, Kemp CJ: The murine gene p27Kip1 is haplo-insufficient for tumour suppression. Nature 1998, 396:177-80.
63. Venkatachalam S, Shi YP, Jones SN, Vogel H, Bradley A, Pinkel D, Donehower LA: Retention of wild-type p53 in tumors from p53 heterozygous mice: reduction of p53 dosage can promote cancer formation. Embo J 1998, 17:4657-67.
64. Inoue K, Zindy F, Randle DH, Rehg JE, Sherr CJ: Dmp1 is haploinsufficient for tumor suppression and modifies the frequencies of Arf and p53 mutations in Myc-induced lymphomas. Genes Dev 2001, 15:2934-9.
65. Kwabi-Addo B, Giri D, Schmidt K, Podsypanina K, Parsons R, Greenberg N, Ittmann M: Haploinsufficiency of the Pten tumor suppressor gene promotes prostate cancer progression. Proc Natl Acad Sci U S A 2001, 98:11563-8.
66. Yan H, Dobbie Z, Gruber SB, Markowitz S, Romans K, Giardiello FM, Kinzler KW, Vogelstein B: Small changes in expression affect predisposition to tumorigenesis. Nat Genet 2002, 30:25-6.
67. Magee JA, Abdulkadir SA, Milbrandt J: Haploinsufficiency at the Nkx3.1 locus. A paradigm for stochastic, dosage-sensitive gene regulation during tumor initiation. Cancer Cell 2003, 3: 73-83.
68. Quon KC, Berns A: Haplo-insufficiency? Let me count the ways. Genes Dev 2001, 15:2917-21.