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Volumn 41, Issue , 2013, Pages 79-91

Novel hereditary forms of pheochromocytomas and paragangliomas

Author keywords

[No Author keywords available]

Indexed keywords

MAMMALIAN TARGET OF RAPAMYCIN; MYC PROTEIN; SUCCINATE DEHYDROGENASE;

EID: 84877946596     PISSN: 03013073     EISSN: 16623762     Source Type: Book Series    
DOI: 10.1159/000345671     Document Type: Article
Times cited : (10)

References (65)
  • 1
    • 0036164438 scopus 로고    scopus 로고
    • Pheochromocytoma
    • Bravo EL: Pheochromocytoma. Cardiol Rev 2002; 10: 44-50.
    • (2002) Cardiol Rev , vol.10 , pp. 44-50
    • Bravo, E.L.1
  • 2
    • 84855940667 scopus 로고    scopus 로고
    • Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas
    • Welander J, Soderkvist P, Gimm O: Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer 2011; 18:R253-R276.
    • (2011) Endocr Relat Cancer , vol.18 , pp. R253-R276
    • Welander, J.1    Soderkvist, P.2    Gimm, O.3
  • 6
    • 79959752614 scopus 로고    scopus 로고
    • Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
    • Comino-Mendez I, Gracia-Aznarez FJ, Schiavi F, et al: Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet 2011; 43: 663-667.
    • (2011) Nat Genet , vol.43 , pp. 663-667
    • Comino-Mendez, I.1    Gracia-Aznarez, F.J.2    Schiavi, F.3
  • 7
    • 33646709396 scopus 로고    scopus 로고
    • Evolving concepts in pheochromocytoma and paraganglioma
    • Dahia PL: Evolving concepts in pheochromocytoma and paraganglioma. Curr Opin Oncol 2006; 18: 1-8 .
    • (2006) Curr Opin Oncol , vol.18 , pp. 1-8
    • Dahia, P.L.1
  • 8
    • 0036805853 scopus 로고    scopus 로고
    • Cytopathies involving mitochondrial complex II
    • Ackrell BA: Cytopathies involving mitochondrial complex II. Mol Aspects Med 2002; 23: 369-384.
    • (2002) Mol Aspects Med , vol.23 , pp. 369-384
    • Ackrell, B.A.1
  • 9
    • 28544446058 scopus 로고    scopus 로고
    • Mitochondrial tumour suppressors: A genetic and biochemical update
    • Gottlieb E, Tomlinson IP: Mitochondrial tumour suppressors: a genetic and biochemical update. Nat Rev Cancer 2005; 5: 857-866 .
    • (2005) Nat Rev Cancer , vol.5 , pp. 857-866
    • Gottlieb, E.1    Tomlinson, I.P.2
  • 11
    • 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
  • 13
    • 84860834761 scopus 로고    scopus 로고
    • An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes
    • Gimenez-Roqueplo AP, Dahia PL, Robledo M: An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. Horm Metab Res 2012; 44: 328-333 .
    • (2012) Horm Metab Res , vol.44 , pp. 328-333
    • Gimenez-Roqueplo, A.P.1    Dahia, P.L.2    Robledo, M.3
  • 15
    • 27244446452 scopus 로고    scopus 로고
    • Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene
    • Schiavi F, Boedeker CC, Bausch B, et al: Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA 2005; 294: 2057-2063 .
    • (2005) JAMA , vol.294 , pp. 2057-2063
    • Schiavi, F.1    Boedeker, C.C.2    Bausch, B.3
  • 21
    • 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 HP, Erlic Z, Boedeker CC, 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.1    Erlic, Z.2    Boedeker, C.C.3
  • 22
    • 77952953844 scopus 로고    scopus 로고
    • Genetics of pheochromocytoma and paraganglioma: New developments
    • Pigny P, Cardot-Bauters C: Genetics of pheochromocytoma and paraganglioma: new developments. Ann Endocrinol (Paris) 2010; 71: 76-82 .
    • (2010) Ann Endocrinol (Paris) , vol.71 , pp. 76-82
    • Pigny, P.1    Cardot-Bauters, C.2
  • 23
  • 28
    • 67651198212 scopus 로고    scopus 로고
    • An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: A retrospective and prospective analysis
    • van Nederveen FH, Gaal J, Favier J, et al: An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol 2009; 10: 764-771 .
    • (2009) Lancet Oncol , vol.10 , pp. 764-771
    • Van Nederveen, F.H.1    Gaal, J.2    Favier, J.3
  • 29
    • 77955594623 scopus 로고    scopus 로고
    • A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas
    • Dahia PL, Ross KN, Wright ME, CY et al: A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet 2005; 1: 72-80 .
    • (2005) PLoS Genet , vol.1 , pp. 72-80
    • Dahia, P.L.1    Ross, K.N.2    Wright, M.E.3    Et Al., C.Y.4
  • 30
    • 77950342008 scopus 로고    scopus 로고
    • SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
    • Bayley JP, Kunst HP, Cascon A, et al: SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol 2010; 11: 366-372 .
    • (2010) Lancet Oncol , vol.11 , pp. 366-372
    • Bayley, J.P.1    Kunst, H.P.2    Cascon, A.3
  • 31
    • 84860834761 scopus 로고    scopus 로고
    • An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes
    • Gimenez-Roqueplo AP, Dahia PL, Robledo M: An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. Horm Metab Res 2012; 44: 328-333.
    • (2012) Horm Metab Res , vol.44 , pp. 328-333
    • Gimenez-Roqueplo, A.P.1    Dahia, P.L.2    Robledo, M.3
  • 33
    • 66849135214 scopus 로고    scopus 로고
    • The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): Molecular genetics and clinical implications
    • Stratakis CA, Carney JA: The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. J Intern Med 2009; 266: 43-52.
    • (2009) J Intern Med , vol.266 , pp. 43-52
    • Stratakis, C.A.1    Carney, J.A.2
  • 35
    • 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 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 .
    • (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    Rotig, A.7    Jeunemaitre, X.8
  • 36
    • 78649404935 scopus 로고    scopus 로고
    • Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas
    • Lopez-Jimenez E, Gomez-Lopez G, Leandro-Garcia LJ, et al: Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas. Mol Endocrinol 2010; 24: 2382-2391 .
    • (2010) Mol Endocrinol , vol.24 , pp. 2382-2391
    • Lopez-Jimenez, E.1    Gomez-Lopez, G.2    Leandro-Garcia, L.J.3
  • 38
    • 33746930794 scopus 로고    scopus 로고
    • Succinate dehydrogenase and fumarate hydratase: Linking mitochondrial dysfunction and cancer
    • King A, Selak MA, Gottlieb E: Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer. Oncogene 2006; 25: 4675-4682 .
    • (2006) Oncogene , vol.25 , pp. 4675-4682
    • King, A.1    Selak, M.A.2    Gottlieb, E.3
  • 39
    • 0142166332 scopus 로고    scopus 로고
    • Targeting HIF-1 for cancer therapy
    • Semenza GL: Targeting HIF-1 for cancer therapy. Nat Rev Cancer 2003; 3: 721-732 .
    • (2003) Nat Rev Cancer , vol.3 , pp. 721-732
    • Semenza, G.L.1
  • 41
    • 36249005491 scopus 로고    scopus 로고
    • Succinate inhibition of {alpha}-ketoglutarate-dependent enzymes in a yeast model of paraganglioma
    • Smith EH, Janknecht R, Maher LJ 3rd: Succinate inhibition of {alpha}-ketoglutarate-dependent enzymes in a yeast model of paraganglioma. Hum Mol Genet 2007; 16: 3136-3148.
    • (2007) Hum Mol Genet , vol.16 , pp. 3136-3148
    • Smith, E.H.1    Janknecht, R.2    Maher, L.J.3
  • 42
    • 84862632865 scopus 로고    scopus 로고
    • Inhibition of alpha-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors
    • Xiao M, Yang H, Xu W, Ma S, Lin H, Zhu H, Liu L, Liu Y, Yang C, Xu Y, Zhao S, Ye D, Xiong Y, Guan KL: Inhibition of alpha-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors. Genes Dev 2012; 26: 1326-1338 .
    • (2012) Genes Dev , vol.26 , pp. 1326-1338
    • Xiao, M.1    Yang, H.2    Xu, W.3    Ma, S.4    Lin, H.5    Zhu, H.6    Liu, L.7    Liu, Y.8    Yang, C.9    Xu, Y.10    Zhao, S.11    Ye, D.12    Xiong, Y.13    Guan, K.L.14
  • 43
    • 49249127688 scopus 로고    scopus 로고
    • Cells silenced for SDHB expression display characteristic features of the tumor phenotype
    • Cervera AM, Apostolova N, Crespo FL, Mata M, McCreath KJ: Cells silenced for SDHB expression display characteristic features of the tumor phenotype. Cancer Res 2008; 68: 4058-4067 .
    • (2008) Cancer Res , vol.68 , pp. 4058-4067
    • Cervera, A.M.1    Apostolova, N.2    Crespo, F.L.3    Mata, M.4    McCreath, K.J.5
  • 45
    • 78650200503 scopus 로고    scopus 로고
    • Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas
    • Yao L, Schiavi F, Cascon A, et al: Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. JAMA 2010; 304: 2611-2619.
    • (2010) JAMA , vol.304 , pp. 2611-2619
    • Yao, L.1    Schiavi, F.2    Cascon, A.3
  • 47
    • 79960716090 scopus 로고    scopus 로고
    • Claudin family proteins in Caenorhabditis elegans
    • Simske JS, Hardin J: Claudin family proteins in Caenorhabditis elegans . Methods Mol Biol 2011; 762: 147-169 .
    • (2011) Methods Mol Biol , vol.762 , pp. 147-169
    • Simske, J.S.1    Hardin, J.2
  • 48
    • 84861140704 scopus 로고    scopus 로고
    • MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma
    • Burnichon N, Cascon A, Schiavi F, et al: MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin Cancer Res 2012; 18: 2828-2837 .
    • (2012) Clin Cancer Res , vol.18 , pp. 2828-2837
    • Burnichon, N.1    Cascon, A.2    Schiavi, F.3
  • 49
    • 84863605700 scopus 로고    scopus 로고
    • MAX and MYC: A Heritable Breakup
    • Cascon A, Robledo M: MAX and MYC: A Heritable Breakup. Cancer Res 2012 ;72:3119-3124.
    • (2012) Cancer Res , vol.72 , pp. 3119-3124
    • Cascon, A.1    Robledo, M.2
  • 50
    • 19944429270 scopus 로고    scopus 로고
    • Distinct gene expression profiles in norepinephrine-and epinephrine-producing hereditary and sporadic pheochromocytomas: Activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome
    • Eisenhofer G, Huynh TT, Pacak K, Brouwers FM, Walther MM, Linehan WM, Munson PJ, Mannelli M, Goldstein DS, Elkahloun AG: 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 2004; 11: 897-911 .
    • (2004) Endocr Relat Cancer , vol.11 , pp. 897-911
    • Eisenhofer, G.1    Huynh, T.T.2    Pacak, K.3    Brouwers, F.M.4    Walther, M.M.5    Linehan, W.M.6    Munson, P.J.7    Mannelli, M.8    Goldstein, D.S.9    Elkahloun, A.G.10
  • 57
    • 0037046659 scopus 로고    scopus 로고
    • Germ-line mutations in nonsyndromic pheochromocytoma
    • Neumann HP, Bausch B, McWhinney SR, et al: Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 2002; 346: 1459-1466 .
    • (2002) N Engl J Med , vol.346 , pp. 1459-1466
    • Neumann, H.P.1    Bausch, B.2    McWhinney, S.R.3
  • 60
    • 66149098136 scopus 로고    scopus 로고
    • Clinically guided genetic screening in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas
    • Mannelli M, Castellano M, Schiavi F, et al: Clinically guided genetic screening in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. J Clin Endocrinol Metab 2009; 94: 1541-1547 .
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 1541-1547
    • Mannelli, M.1    Castellano, M.2    Schiavi, F.3
  • 62
    • 84861329707 scopus 로고    scopus 로고
    • Clinical benefits of systemic chemotherapy for patients with metastatic pheochromocytomas or sympathetic extra-adrenal paragangliomas: Insights from the largest single-institutional experience
    • Ayala-Ramirez M, Feng L, Habra MA, Rich T, Dickson PV, Perrier N, Phan A, Waguespack S, Patel S, Jimenez C: Clinical benefits of systemic chemotherapy for patients with metastatic pheochromocytomas or sympathetic extra-adrenal paragangliomas: insights from the largest single-institutional experience. Cancer 2012; 118: 2804-2812 .
    • (2012) Cancer , vol.118 , pp. 2804-2812
    • Ayala-Ramirez, M.1    Feng, L.2    Habra, M.A.3    Rich, T.4    Dickson, P.V.5    Perrier, N.6    Phan, A.7    Waguespack, S.8    Patel, S.9    Jimenez, C.10
  • 65
    • 84866405398 scopus 로고    scopus 로고
    • Combined blockade of signalling pathways shows marked anti-tumour potential in phaeochromocytoma cell lines
    • Nolting S, Garcia E, Alusi G, Giubellino A, Pacak K, Korbonits M, Grossman A: Combined blockade of signalling pathways shows marked anti-tumour potential in phaeochromocytoma cell lines. J Mol Endocrinol 2012; 49: 79-96.
    • (2012) J Mol Endocrinol , vol.49 , pp. 79-96
    • Nolting, S.1    Garcia, E.2    Alusi, G.3    Giubellino, A.4    Pacak, K.5    Korbonits, M.6    Grossman, A.7


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