메뉴 건너뛰기




Volumn 71, Issue 2, 2010, Pages 76-82

Genetics of pheochromocytoma and paraganglioma: New developments;Génétique des phéochromocytomes et paragangliomes: Nouveaux développements

Author keywords

Molecular genetics; Paraganglioma; Pheochromocytoma; Susceptibility genes

Indexed keywords

KINESIN; NEUROFIBROMIN; PROCOLLAGEN PROLINE 2 OXOGLUTARATE 4 DIOXYGENASE; PROTEIN KIF1B BETA; PROTEIN RET; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE A; SUCCINATE DEHYDROGENASE B; SUCCINATE DEHYDROGENASE C; SUCCINATE DEHYDROGENASE D; UNCLASSIFIED DRUG; VON HIPPEL LINDAU PROTEIN;

EID: 77952953844     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ando.2009.11.004     Document Type: Review
Times cited : (7)

References (31)
  • 2
    • 0021764576 scopus 로고
    • Pheochromocytoma: diagnostic, localization and management
    • Bravo E.L., Gifford R.W. Pheochromocytoma: diagnostic, localization and management. N Engl J Med 1984, 311:298-303.
    • (1984) N Engl J Med , vol.311 , pp. 298-303
    • Bravo, E.L.1    Gifford, R.W.2
  • 3
    • 0031937277 scopus 로고    scopus 로고
    • Effectiveness and limits of preoperative imaging studies for the localization of pheochromocytomas and paragangliomas: a review of 282 cases
    • Jalil N.D., Pattou F.N., Combemale F., Chapuis Y., Henry J.F., Peix J.L., et al. Effectiveness and limits of preoperative imaging studies for the localization of pheochromocytomas and paragangliomas: a review of 282 cases. Eur J Surg 1998, 164:23-28.
    • (1998) Eur J Surg , vol.164 , pp. 23-28
    • Jalil, N.D.1    Pattou, F.N.2    Combemale, F.3    Chapuis, Y.4    Henry, J.F.5    Peix, J.L.6
  • 4
    • 0036712593 scopus 로고    scopus 로고
    • Hereditary paraganglioma targets diverse paraganglia
    • Baysal B.E. Hereditary paraganglioma targets diverse paraganglia. J Med Genet 2002, 39:617-622.
    • (2002) J Med Genet , vol.39 , pp. 617-622
    • Baysal, B.E.1
  • 7
    • 0033767445 scopus 로고    scopus 로고
    • Mutations in SDHC cause autosomal dominant paraganglioma, type 3
    • Niemann S., Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 2000, 26:268-270.
    • (2000) Nat Genet , vol.26 , pp. 268-270
    • Niemann, S.1    Muller, U.2
  • 8
    • 0034964421 scopus 로고    scopus 로고
    • Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
    • Astuti D., Latif F., Dallol A., Dahia P.L., Douglas F., George E., et al. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 2001, 69:49-54.
    • (2001) Am J Hum Genet , vol.69 , pp. 49-54
    • Astuti, D.1    Latif, F.2    Dallol, A.3    Dahia, P.L.4    Douglas, F.5    George, E.6
  • 9
    • 3342943223 scopus 로고    scopus 로고
    • Genomic imprinting and environment in hereditary paraganglioma
    • Baysal B.E. Genomic imprinting and environment in hereditary paraganglioma. Am J Med Genet 2004, 129C:85-90.
    • (2004) Am J Med Genet , vol.129 C , pp. 85-90
    • Baysal, B.E.1
  • 12
    • 0035234557 scopus 로고    scopus 로고
    • Genomic imprinting: parental influence on the genome
    • Reik W., Walter J. Genomic imprinting: parental influence on the genome. Nat Rev Genet 2001, 2:21-32.
    • (2001) Nat Rev Genet , vol.2 , pp. 21-32
    • Reik, W.1    Walter, J.2
  • 13
    • 2942561954 scopus 로고    scopus 로고
    • Somatic loss of maternal chromosome 11 causes parent-of-origin-dependant inheritance in SDHD-linked paraganglioma and phaechromocytoma families
    • Hensen E.F., Jordanova E.S., van Minderhout I.J.H.M., Hogendoorn P.C.W., Taschner P.E.M., et al. Somatic loss of maternal chromosome 11 causes parent-of-origin-dependant inheritance in SDHD-linked paraganglioma and phaechromocytoma families. Oncogene 2004, 23:4076-4083.
    • (2004) Oncogene , vol.23 , pp. 4076-4083
    • Hensen, E.F.1    Jordanova, E.S.2    van Minderhout, I.J.H.M.3    Hogendoorn, P.C.W.4    Taschner, P.E.M.5
  • 15
    • 84860437767 scopus 로고    scopus 로고
    • The Dutch founder mutation SDHD D92Y shows a reduced penetrance for the development of paragangliomas in large multigenerational family
    • [ahead of print]
    • Hensen E.F., Jansen J.C., Siemers M.D., Oosterwijk J.C., Vriends A.H.J.T., Corssmit E.P.M., et al. The Dutch founder mutation SDHD D92Y shows a reduced penetrance for the development of paragangliomas in large multigenerational family. Eur J Hum Genet 2009, 8. [ahead of print].
    • (2009) Eur J Hum Genet , vol.8
    • Hensen, E.F.1    Jansen, J.C.2    Siemers, M.D.3    Oosterwijk, J.C.4    Vriends, A.H.J.T.5    Corssmit, E.P.M.6
  • 16
    • 68549092478 scopus 로고    scopus 로고
    • The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas
    • Burnichon N., Rohmer V., Amar L., Herman P., Leboulleux S., Darrouzet V., et al. The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. J Clin Endocrinol Metab 2009, 94:2817-2827.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 2817-2827
    • Burnichon, N.1    Rohmer, V.2    Amar, L.3    Herman, P.4    Leboulleux, S.5    Darrouzet, V.6
  • 17
    • 0035213138 scopus 로고    scopus 로고
    • 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
    • Gimenez-Roqueplo A.P., Favier J., Rustin P., Mourad J.J., Plouin P.F., Corvol 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 2001, 69:1186-1197.
    • (2001) Am J Hum Genet , vol.69 , pp. 1186-1197
    • Gimenez-Roqueplo, A.P.1    Favier, J.2    Rustin, P.3    Mourad, J.J.4    Plouin, P.F.5    Corvol, P.6
  • 18
    • 24744445823 scopus 로고    scopus 로고
    • Concomitant deregulation of HIFalpha and cell cycle proteins in VHL mutated renal cell carcinomas
    • Atkins D.J., Gingert C., Justenhoven C., Schmahl G.E., Bonato M.S., Brauch H., et al. Concomitant deregulation of HIFalpha and cell cycle proteins in VHL mutated renal cell carcinomas. Virchows Arch. 2005, 447:634-642.
    • (2005) Virchows Arch. , vol.447 , pp. 634-642
    • Atkins, D.J.1    Gingert, C.2    Justenhoven, C.3    Schmahl, G.E.4    Bonato, M.S.5    Brauch, H.6
  • 20
    • 33646140913 scopus 로고    scopus 로고
    • P53 stabilization and transactivation by a von Hippel Lindau protein
    • Roe J.S., Kim H., Lee S.M., Kim S.T., Cho E.J., Youn H.D. P53 stabilization and transactivation by a von Hippel Lindau protein. Mol Cell 2006, 22:395-405.
    • (2006) Mol Cell , vol.22 , pp. 395-405
    • Roe, J.S.1    Kim, H.2    Lee, S.M.3    Kim, S.T.4    Cho, E.J.5    Youn, H.D.6
  • 21
    • 70349318347 scopus 로고    scopus 로고
    • Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel Lindau disease and suggests molecular mechanisms of tumourigenesis
    • Forman J.R., Worth C.L., Bickerton G.R.J., Eisen T.G., Blundell T.L. Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel Lindau disease and suggests molecular mechanisms of tumourigenesis. Proteins 2009, 77:84-96.
    • (2009) Proteins , vol.77 , pp. 84-96
    • Forman, J.R.1    Worth, C.L.2    Bickerton, G.R.J.3    Eisen, T.G.4    Blundell, T.L.5
  • 22
    • 23644436667 scopus 로고    scopus 로고
    • Neuronal apoptosis linked to EglN3 prolylhydroxylase and familial pheochromocytoma genes: developmental culling and cancer
    • Lee S., Nakamura E., Yang H., Wei W., Linggi M.S., Sajan M.P., et al. Neuronal apoptosis linked to EglN3 prolylhydroxylase and familial pheochromocytoma genes: developmental culling and cancer. Cancer Cell. 2005, 8:155-167.
    • (2005) Cancer Cell. , vol.8 , pp. 155-167
    • Lee, S.1    Nakamura, E.2    Yang, H.3    Wei, W.4    Linggi, M.S.5    Sajan, M.P.6
  • 23
    • 23644461597 scopus 로고    scopus 로고
    • A common pathway for genetic events leading to pheochromocytoma
    • Maxwell P.H. A common pathway for genetic events leading to pheochromocytoma. Cancer Cell 2005, 8:91-93.
    • (2005) Cancer Cell , vol.8 , pp. 91-93
    • Maxwell, P.H.1
  • 24
    • 41649116940 scopus 로고    scopus 로고
    • The kinesin KIF1Bβ acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor
    • Schlisio S., Kenchappa R.S., Vredeveld L.C.W., George R.E., Stewart R., Greulich H., et al. The kinesin KIF1Bβ acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. Genes Dev. 2008, 22:884-893.
    • (2008) Genes Dev. , vol.22 , pp. 884-893
    • Schlisio, S.1    Kenchappa, R.S.2    Vredeveld, L.C.W.3    George, R.E.4    Stewart, R.5    Greulich, H.6
  • 25
    • 53749107898 scopus 로고    scopus 로고
    • A germline mutation of the KIF1Bβ gene on 1p36 family with neural and nonneural tumors
    • Yeh I.T., Lenci R.E., Qin Y., Buddavarapu K., Ligon A.H., Leteurtre E., et al. A germline mutation of the KIF1Bβ gene on 1p36 family with neural and nonneural tumors. Hum Genet 2008, 124:279-285.
    • (2008) Hum Genet , vol.124 , pp. 279-285
    • Yeh, I.T.1    Lenci, R.E.2    Qin, Y.3    Buddavarapu, K.4    Ligon, A.H.5    Leteurtre, E.6
  • 27
    • 64849087954 scopus 로고    scopus 로고
    • Puzzling patterns of predisposition
    • Pollard P.J., Ratcliffe P.J. Puzzling patterns of predisposition. Science 2009, 324:192-194.
    • (2009) Science , vol.324 , pp. 192-194
    • Pollard, P.J.1    Ratcliffe, P.J.2
  • 28
    • 69549088424 scopus 로고    scopus 로고
    • SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma
    • Hao H.-X., Khalimonchuk O., Schraders M., Dephoure N., Bayley J.P., Kunst H., et al. SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 2009, 325:1139-1142.
    • (2009) Science , vol.325 , pp. 1139-1142
    • Hao, H.-X.1    Khalimonchuk, O.2    Schraders, M.3    Dephoure, N.4    Bayley, J.P.5    Kunst, H.6
  • 29
    • 61449266628 scopus 로고    scopus 로고
    • Should genetic testing be formed in each patient with sporadic pheochromocytoma at presentation?
    • Pigny P., Cardot-Bauters C., Do Cao C., Vantyghem M.C., Carnaille B., Pattou F., et al. Should genetic testing be formed in each patient with sporadic pheochromocytoma at presentation?. Eur J Endocrinol. 2009, 160:227-231.
    • (2009) Eur J Endocrinol. , vol.160 , pp. 227-231
    • Pigny, P.1    Cardot-Bauters, C.2    Do Cao, C.3    Vantyghem, M.C.4    Carnaille, B.5    Pattou, F.6
  • 30
    • 60349130863 scopus 로고    scopus 로고
    • When should genetic testing be obtained in a patient with pheochromocytoma or paraganglioma?
    • Erlic Z., Neumann H.P.H. When should genetic testing be obtained in a patient with pheochromocytoma or paraganglioma?. Clin Endocrinol. 2009, 70:354-357.
    • (2009) Clin Endocrinol. , vol.70 , pp. 354-357
    • Erlic, Z.1    Neumann, H.P.H.2
  • 31
    • 66049145825 scopus 로고    scopus 로고
    • Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out
    • Neumann H.P.H., Erlic Z., Boedecker C.C., Rybicki L.A., Robledo M., Hermsen M., et al. Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. Cancer Res. 2009, 69:3650-3656.
    • (2009) Cancer Res. , vol.69 , pp. 3650-3656
    • Neumann, H.P.H.1    Erlic, Z.2    Boedecker, C.C.3    Rybicki, L.A.4    Robledo, M.5    Hermsen, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.