메뉴 건너뛰기




Volumn 17, Issue 8, 2015, Pages 610-620

Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations

Author keywords

genetics; immunohistochemistry; paragangliomas; pheochromocytomas; succinate dehydrogenase

Indexed keywords

SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE A; SUCCINATE DEHYDROGENASE AF2; SUCCINATE DEHYDROGENASE B; SUCCINATE DEHYDROGENASE C; SUCCINATE DEHYDROGENASE D; UNCLASSIFIED DRUG;

EID: 84938677284     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.162     Document Type: Article
Times cited : (93)

References (82)
  • 1
    • 0034602950 scopus 로고    scopus 로고
    • Mutations in sdhd, a mitochondrial complex ii gene, in hereditary paraganglioma
    • Baysal BE, Ferrell RE, Willett-Brozick JE, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000; 287: 848-851
    • (2000) Science , vol.287 , pp. 848-851
    • Baysal, B.E.1    Ferrell, R.E.2    Willett-Brozick, J.E.3
  • 2
    • 69549088424 scopus 로고    scopus 로고
    • Sdh5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma
    • Hao HX, Khalimonchuk O, Schraders M, 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
  • 3
    • 67349189168 scopus 로고    scopus 로고
    • Sdhaf1, encoding a lyr complex-ii specific assembly factor, is mutated in sdh-defective infantile leukoencephalopathy
    • Ghezzi D, Goffrini P, Uziel G, et al. SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet 2009; 41: 654-656
    • (2009) Nat Genet , vol.41 , pp. 654-656
    • Ghezzi, D.1    Goffrini, P.2    Uziel, G.3
  • 4
    • 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, 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
  • 5
    • 0033767445 scopus 로고    scopus 로고
    • Mutations in sdhc cause autosomal dominant paraganglioma, type 3
    • Niemann S, Müller 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    Müller, U.2
  • 6
    • 77958164441 scopus 로고    scopus 로고
    • Sdha is a tumor suppressor gene causing paraganglioma
    • Burnichon N, Brière JJ, Libé R, et al. SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet 2010; 19: 3011-3020
    • (2010) Hum Mol Genet , vol.19 , pp. 3011-3020
    • Burnichon, N.1    Brière, J.J.2    Libé, R.3
  • 7
    • 9144249602 scopus 로고    scopus 로고
    • Early-onset renal cell carcinoma as a novel extraparaganglial component of sdhb-Associated heritable paraganglioma
    • Vanharanta S, Buchta M, McWhinney SR, et al. Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-Associated heritable paraganglioma. Am J Hum Genet 2004; 74: 153-159
    • (2004) Am J Hum Genet , vol.74 , pp. 153-159
    • Vanharanta, S.1    Buchta, M.2    McWhinney, S.R.3
  • 8
    • 84869233067 scopus 로고    scopus 로고
    • Succinate dehydrogenase (sdhx mutations in pituitary tumors: Could this be a new role for mitochondrial complex ii and/or krebs cycle defects
    • Xekouki P, Stratakis CA. Succinate dehydrogenase (SDHx) mutations in pituitary tumors: could this be a new role for mitochondrial complex II and/or Krebs cycle defects? Endocr Relat Cancer 2012; 19: C33-C40
    • (2012) Endocr Relat Cancer , vol.19 , pp. C33-C40
    • Xekouki, P.1    Stratakis, C.A.2
  • 9
    • 37349074531 scopus 로고    scopus 로고
    • Clinical and molecular genetics of patients with the carney-stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits sdhb, sdhc, and sdhd
    • Pasini B, McWhinney SR, Bei T, et al. Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet 2008; 16: 79-88
    • (2008) Eur J Hum Genet , vol.16 , pp. 79-88
    • Pasini, B.1    McWhinney, S.R.2    Bei, T.3
  • 10
    • 18544365990 scopus 로고    scopus 로고
    • Germline mutations in fh predispose to dominantly inherited uterine fibroids skin leiomyomata and papillary renal cell cancer
    • Multiple Leiomyoma Consortium
    • Tomlinson IP, Alam NA, Rowan AJ, et al.; Multiple Leiomyoma Consortium. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 2002; 30: 406-410
    • (2002) Nat Genet , vol.30 , pp. 406-410
    • Tomlinson, I.P.1    Alam, N.A.2    Rowan, A.J.3
  • 11
    • 84897524498 scopus 로고    scopus 로고
    • Germline mutations in fh confer predisposition to malignant pheochromocytomas and paragangliomas
    • Castro-Vega LJ, Buffet A, De Cubas AA, et al. Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. Hum Mol Genet 2014; 23: 2440-2446
    • (2014) Hum Mol Genet , vol.23 , pp. 2440-2446
    • Castro-Vega, L.J.1    Buffet, A.2    De Cubas, A.A.3
  • 12
    • 60849115270 scopus 로고    scopus 로고
    • Idh1 and idh2 mutations in gliomas
    • Yan H, Parsons DW, Jin G, et al. IDH1 and IDH2 mutations in gliomas. N Engl J Med 2009; 360: 765-773
    • (2009) N Engl J Med , vol.360 , pp. 765-773
    • Yan, H.1    Parsons, D.W.2    Jin, G.3
  • 13
    • 84871731169 scopus 로고    scopus 로고
    • Mutations in the isocitrate dehydrogenase genes idh1 and idh2 in tumors
    • Schaap FG, French PJ, Bovée JV. Mutations in the isocitrate dehydrogenase genes IDH1 and IDH2 in tumors. Adv Anat Pathol 2013; 20: 32-38
    • (2013) Adv Anat Pathol , vol.20 , pp. 32-38
    • Schaap, F.G.1    French, P.J.2    Bovée, J.V.3
  • 14
    • 78149466021 scopus 로고    scopus 로고
    • Idh1 and idh2 mutations are frequent in chinese patients with acute myeloid leukemia but rare in other types of hematological disorders
    • Zou Y, Zeng Y, Zhang DF, Zou SH, Cheng YF, Yao YG. IDH1 and IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia but rare in other types of hematological disorders. Biochem Biophys Res Commun 2010; 402: 378-383
    • (2010) Biochem Biophys Res Commun , vol.402 , pp. 378-383
    • Zou, Y.1    Zeng, Y.2    Zhang, D.F.3    Zou, S.H.4    Cheng, Y.F.5    Yao, Y.G.6
  • 15
    • 80054959409 scopus 로고    scopus 로고
    • Revisiting the tca cycle: Signaling to tumor formation
    • Raimundo N, Baysal BE, Shadel GS. Revisiting the TCA cycle: signaling to tumor formation. Trends Mol Med 2011; 17: 641-649
    • (2011) Trends Mol Med , vol.17 , pp. 641-649
    • Raimundo, N.1    Baysal, B.E.2    Shadel, G.S.3
  • 16
    • 84920136325 scopus 로고    scopus 로고
    • Mitochondrial dysfunctions in cancer: Genetic defects and oncogenic signaling impinging on tca cycle activity
    • e-pub ahead of print 12 March 2014
    • Desideri E, Vegliante R, Ciriolo MR. Mitochondrial dysfunctions in cancer: genetic defects and oncogenic signaling impinging on TCA cycle activity. Cancer Lett 2014; doi: 10.1016/j.canlet.2014.02.023 e-pub ahead of print 12 March 2014
    • (2014) Cancer Lett
    • Desideri, E.1    Vegliante, R.2    Ciriolo, M.R.3
  • 17
    • 84870281311 scopus 로고    scopus 로고
    • Recessive germline sdha and sdhb mutations causing leukodystrophy and isolated mitochondrial complex ii deficiency
    • Alston CL, Davison JE, Meloni F, et al. Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. J Med Genet 2012; 49: 569-577
    • (2012) J Med Genet , vol.49 , pp. 569-577
    • Alston, C.L.1    Davison, J.E.2    Meloni, F.3
  • 18
    • 77957128549 scopus 로고    scopus 로고
    • Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase
    • Levitas A, Muhammad E, Harel G, et al. Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. Eur J Hum Genet 2010; 18: 1160-1165
    • (2010) Eur J Hum Genet , vol.18 , pp. 1160-1165
    • Levitas, A.1    Muhammad, E.2    Harel, G.3
  • 19
    • 0029159804 scopus 로고
    • Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
    • Bourgeron T, Rustin P, Chretien D, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 1995; 11: 144-149
    • (1995) Nat Genet , vol.11 , pp. 144-149
    • Bourgeron, T.1    Rustin, P.2    Chretien, D.3
  • 21
    • 77956534324 scopus 로고    scopus 로고
    • Annovar: Functional annotation of genetic variants from high-Throughput sequencing data
    • Wang K, Li MY, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-Throughput sequencing data. Nucleic Acids Res 2010; 38: e164
    • (2010) Nucleic Acids Res , vol.38 , pp. e164
    • Wang, K.1    Li, M.Y.2    Hakonarson, H.3
  • 22
    • 38149063754 scopus 로고    scopus 로고
    • Improving sequence variant descriptions in mutation databases and literature using the mutalyzer sequence variation nomenclature checker
    • Accessed 1 April 2014
    • Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE. Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 2008; 29: 6-13. Accessed 1 April, 2014
    • (2008) Hum Mutat , vol.29 , pp. 6-13
    • Wildeman, M.1    Van Ophuizen, E.2    Den Dunnen, J.T.3    Taschner, P.E.4
  • 23
    • 79960097330 scopus 로고    scopus 로고
    • Chapter 18, The Reference Sequence (RefSeq) Project. National Library of Medicine: Bethesda, MD
    • National Center for Biotechnology Information. Chapter 18, The Reference Sequence (RefSeq) Project. http://www.ncbi.nlm.nih.gov/books/NBK21091. National Library of Medicine: Bethesda, MD, 2002
    • (2002) National Center for Biotechnology Information
  • 24
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000; 15: 7-12
    • (2000) Hum Mutat , vol.15 , pp. 7-12
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 25
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1, 092 human genomes
    • Altshuler DM, Durbin RM, Abecasis GR, et al. An integrated map of genetic variation from 1, 092 human genomes. Nature 2012; 491: 56-65
    • (2012) Nature , vol.491 , pp. 56-65
    • Altshuler, D.M.1    Durbin, R.M.2    Abecasis, G.R.3
  • 26
    • 84855252084 scopus 로고    scopus 로고
    • National Center for Biotechnology Information). National Library of Medicine: Bethesda, MD
    • National Center for Biotechnology Information. Database of Single Nucleotide Polymorphisms (dbSNP). National Library of Medicine: Bethesda, MD
    • Database of Single Nucleotide Polymorphisms (DbSNP
  • 27
    • 84891809093 scopus 로고    scopus 로고
    • Clinvar: Public archive of relationships among sequence variation and human phenotype
    • Database issue
    • Landrum MJ, Lee JM, Riley GR, et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res 2014; 42(Database issue): D980-D985
    • (2014) Nucleic Acids Res , vol.42 , pp. D980-D985
    • Landrum, M.J.1    Lee, J.M.2    Riley, G.R.3
  • 28
    • 78651330430 scopus 로고    scopus 로고
    • Cosmic: Mining complete cancer genomes in the catalogue of somatic mutations in cancer
    • Database issue
    • Forbes SA, Bindal N, Bamford S, et al. COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res 2011; 39(Database issue): D945-D950
    • (2011) Nucleic Acids Res , vol.39 , pp. D945-D950
    • Forbes, S.A.1    Bindal, N.2    Bamford, S.3
  • 29
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions
    • Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001; 11: 863-874
    • (2001) Genome Res , vol.11 , pp. 863-874
    • Ng, P.C.1    Henikoff, S.2
  • 30
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-249
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 31
    • 44949137643 scopus 로고    scopus 로고
    • Determinants of protein function revealed by combinatorial entropy optimization
    • Reva B, Antipin Y, Sander C. Determinants of protein function revealed by combinatorial entropy optimization. Genome Biol 2007; 8: R232
    • (2007) Genome Biol , vol.8 , pp. R232
    • Reva, B.1    Antipin, Y.2    Sander, C.3
  • 32
    • 79953715693 scopus 로고    scopus 로고
    • Improving the assessment of the outcome of nonsynonymous snvs with a consensus deleteriousness score, condel
    • González-Pérez A, López-Bigas N. Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am J Hum Genet 2011; 88: 440-449
    • (2011) Am J Hum Genet , vol.88 , pp. 440-449
    • González-Pérez, A.1    López-Bigas, N.2
  • 33
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • Kircher M, Witten DM, Jain P, ORoak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 2014; 46: 310-315
    • (2014) Nat Genet , vol.46 , pp. 310-315
    • Kircher, M.1    Witten, D.M.2    Jain, P.3    Oroak, B.J.4    Cooper, G.M.5    Shendure, J.6
  • 34
    • 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
  • 35
    • 80052540617 scopus 로고    scopus 로고
    • Sdha immunohistochemistry detects germline sdha gene mutations in apparently sporadic paragangliomas and pheochromocytomas
    • Korpershoek E, Favier J, Gaal J, et al. SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. J Clin Endocrinol Metab 2011; 96: E1472-E1476
    • (2011) J Clin Endocrinol Metab , vol.96 , pp. E1472-E1476
    • Korpershoek, E.1    Favier, J.2    Gaal, J.3
  • 36
    • 84861996762 scopus 로고    scopus 로고
    • Epithelial to mesenchymal transition is activated in metastatic pheochromocytomas and paragangliomas caused by sdhb gene mutations
    • Loriot C, Burnichon N, Gadessaud N, et al. Epithelial to mesenchymal transition is activated in metastatic pheochromocytomas and paragangliomas caused by SDHB gene mutations. J Clin Endocrinol Metab 2012; 97: E954-E962
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. E954-E962
    • Loriot, C.1    Burnichon, N.2    Gadessaud, N.3
  • 37
    • 84878969599 scopus 로고    scopus 로고
    • Sdh mutations establish a hypermethylator phenotype in paraganglioma
    • Letouzé E, Martinelli C, Loriot C, et al. SDH mutations establish a hypermethylator phenotype in paraganglioma. Cancer Cell 2013; 23: 739-752
    • (2013) Cancer Cell , vol.23 , pp. 739-752
    • Letouzé, E.1    Martinelli, C.2    Loriot, C.3
  • 38
    • 66849143816 scopus 로고    scopus 로고
    • Sdh mutations in tumorigenesis and inherited endocrine tumours: Lesson from the phaeochromocytoma-paraganglioma syndromes
    • Pasini B, Stratakis CA. SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. J Intern Med 2009; 266: 19-42
    • (2009) J Intern Med , vol.266 , pp. 19-42
    • Pasini, B.1    Stratakis, C.A.2
  • 39
    • 0141704510 scopus 로고    scopus 로고
    • Mutations in the sdhb gene are associated with extra-Adrenal and/or malignant phaeochromocytomas
    • COMETE Network
    • Gimenez-Roqueplo AP, Favier J, Rustin P, et al.; COMETE Network. Mutations in the SDHB gene are associated with extra-Adrenal and/or malignant phaeochromocytomas. Cancer Res 2003; 63: 5615-5621
    • (2003) Cancer Res , vol.63 , pp. 5615-5621
    • Gimenez-Roqueplo, A.P.1    Favier, J.2    Rustin, P.3
  • 40
    • 80755127100 scopus 로고    scopus 로고
    • Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: Significant link to sdhb mutations
    • King KS, Prodanov T, Kantorovich V, et al. Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations. J Clin Oncol 2011; 29: 4137-4142
    • (2011) J Clin Oncol , vol.29 , pp. 4137-4142
    • King, K.S.1    Prodanov, T.2    Kantorovich, V.3
  • 41
    • 84872864140 scopus 로고    scopus 로고
    • Immunohistochemical loss of succinate dehydrogenase subunit a (sdha) in gastrointestinal stromal tumors (gists) signals sdha germline mutation
    • Miettinen M, Killian JK, Wang ZF, et al. Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation. Am J Surg Pathol 2013; 37: 234-240
    • (2013) Am J Surg Pathol , vol.37 , pp. 234-240
    • Miettinen, M.1    Killian, J.K.2    Wang, Z.F.3
  • 42
    • 84889647247 scopus 로고    scopus 로고
    • Gastrointestinal stromal tumours: From kit to succinate dehydrogenase
    • Doyle LA, Hornick JL. Gastrointestinal stromal tumours: from KIT to succinate dehydrogenase. Histopathology 2014; 64: 53-67
    • (2014) Histopathology , vol.64 , pp. 53-67
    • Doyle, L.A.1    Hornick, J.L.2
  • 43
    • 84900390656 scopus 로고    scopus 로고
    • The international society of urological pathology (isup) vancouver classification of renal neoplasia
    • ISUP Renal Tumor Panel
    • Srigley JR, Delahunt B, Eble JN, et al.; ISUP Renal Tumor Panel. The International Society of Urological Pathology (ISUP) Vancouver Classification of renal neoplasia. Am J Surg Pathol 2013; 37: 1469-1489
    • (2013) Am J Surg Pathol , vol.37 , pp. 1469-1489
    • Srigley, J.R.1    Delahunt, B.2    Eble, J.N.3
  • 44
    • 84920639883 scopus 로고    scopus 로고
    • Succinate dehydrogenase-deficient renal cell carcinoma: Detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma
    • e-pub ahead of print 18 July 2014
    • Williamson SR, Eble JN, Amin MB, et al. Succinate dehydrogenase-deficient renal cell carcinoma: detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma. Mod Pathol 2014; e-pub ahead of print 18 July 2014.doi: 10.1038/modpathol.2014.86
    • (2014) Mod Pathol
    • Williamson, S.R.1    Eble, J.N.2    Amin, M.B.3
  • 45
    • 84914666223 scopus 로고    scopus 로고
    • Succinate dehydrogenase (sdh)-deficient renal carcinoma: A morphologically distinct entity: A clinicopathologic series of 36 tumors from 27 patients
    • e-pub ahead of print 14 July 2014
    • Gill AJ, Hes O, Papathomas T, et al. Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients. Am J Surg Pathol 2014; e-pub ahead of print 14 July 2014
    • (2014) Am J Surg Pathol
    • Gill, A.J.1    Hes, O.2    Papathomas, T.3
  • 46
    • 84890528424 scopus 로고    scopus 로고
    • Non-pheochromocytoma (pcc)/paraganglioma (pgl) tumors in patients with succinate dehydrogenaserelated pcc-pgl syndromes: A clinicopathological and molecular analysis
    • Papathomas TG, Gaal J, Corssmit EP, et al. Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenaserelated PCC-PGL syndromes: a clinicopathological and molecular analysis. Eur J Endocrinol 2014; 170: 1-12
    • (2014) Eur J Endocrinol , vol.170 , pp. 1-12
    • Papathomas, T.G.1    Gaal, J.2    Corssmit, E.P.3
  • 47
    • 84896594874 scopus 로고    scopus 로고
    • Succinate dehydrogenase deficiency is rare in pituitary adenomas
    • Gill AJ, Toon CW, Clarkson A, et al. Succinate dehydrogenase deficiency is rare in pituitary adenomas. Am J Surg Pathol 2014; 38: 560-566
    • (2014) Am J Surg Pathol , vol.38 , pp. 560-566
    • Gill, A.J.1    Toon, C.W.2    Clarkson, A.3
  • 48
    • 84872850446 scopus 로고    scopus 로고
    • Loss of sdha expression identifies sdha mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors
    • Dwight T, Benn DE, Clarkson A, et al. Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors. Am J Surg Pathol 2013; 37: 226-233
    • (2013) Am J Surg Pathol , vol.37 , pp. 226-233
    • Dwight, T.1    Benn, D.E.2    Clarkson, A.3
  • 49
    • 84866170525 scopus 로고    scopus 로고
    • Sdha loss of function mutations in a subset of young adult wild-Type gastrointestinal stromal tumors
    • Italiano A, Chen CL, Sung YS, et al. SDHA loss of function mutations in a subset of young adult wild-Type gastrointestinal stromal tumors. BMC Cancer 2012; 12: 408
    • (2012) BMC Cancer , vol.12 , pp. 408
    • Italiano, A.1    Chen, C.L.2    Sung, Y.S.3
  • 50
    • 84891067744 scopus 로고    scopus 로고
    • Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors
    • Belinsky MG, Rink L, von Mehren M. Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors. Front Oncol 2013; 3: 117
    • (2013) Front Oncol , vol.3 , pp. 117
    • Belinsky, M.G.1    Rink, L.2    Von Mehren, M.3
  • 51
    • 84878484675 scopus 로고    scopus 로고
    • Familial sdha mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma
    • Dwight T, Mann K, Benn DE, et al. Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma. J Clin Endocrinol Metab 2013; 98: E1103-E1108
    • (2013) J Clin Endocrinol Metab , vol.98 , pp. E1103-E1108
    • Dwight, T.1    Mann, K.2    Benn, D.E.3
  • 53
    • 84862701397 scopus 로고    scopus 로고
    • Biallelic inactivation of the sdhc gene in renal carcinoma associated with paraganglioma syndrome type 3
    • Malinoc A, Sullivan M, Wiech T, et al. Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3. Endocr Relat Cancer 2012; 19: 283-290
    • (2012) Endocr Relat Cancer , vol.19 , pp. 283-290
    • Malinoc, A.1    Sullivan, M.2    Wiech, T.3
  • 55
    • 84885960302 scopus 로고    scopus 로고
    • Mutation screening in a norwegian cohort with pheochromocytoma
    • Sjursen W, Halvorsen H, Hofsli E, et al. Mutation screening in a Norwegian cohort with pheochromocytoma. Fam Cancer 2013; 12: 529-535
    • (2013) Fam Cancer , vol.12 , pp. 529-535
    • Sjursen, W.1    Halvorsen, H.2    Hofsli, E.3
  • 56
    • 79959715470 scopus 로고    scopus 로고
    • Sdha loss-of-function mutations in kit-pdgfra wild-Type gastrointestinal stromal tumors identified by massively parallel sequencing
    • Pantaleo MA, Astolfi A, Indio V, et al. SDHA loss-of-function mutations in KIT-PDGFRA wild-Type gastrointestinal stromal tumors identified by massively parallel sequencing. J Natl Cancer Inst 2011; 103: 983-987
    • (2011) J Natl Cancer Inst , vol.103 , pp. 983-987
    • Pantaleo, M.A.1    Astolfi, A.2    Indio, V.3
  • 58
    • 84871086797 scopus 로고    scopus 로고
    • Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of sdha in wild-Type sdhb-negative gastrointestinal stromal tumors
    • Belinsky MG, Rink L, Flieder DB, et al. Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-Type SDHB-negative gastrointestinal stromal tumors. Genes Chromosomes Cancer 2013; 52: 214-224
    • (2013) Genes Chromosomes Cancer , vol.52 , pp. 214-224
    • Belinsky, M.G.1    Rink, L.2    Flieder, D.B.3
  • 59
    • 84864662004 scopus 로고    scopus 로고
    • A novel germline sdhb mutation in a gastrointestinal stromal tumor patient without bona fide features of the carney-stratakis dyad
    • Celestino R, Lima J, Faustino A, et al. A novel germline SDHB mutation in a gastrointestinal stromal tumor patient without bona fide features of the Carney-Stratakis dyad. Fam Cancer 2012; 11: 189-194
    • (2012) Fam Cancer , vol.11 , pp. 189-194
    • Celestino, R.1    Lima, J.2    Faustino, A.3
  • 60
    • 84875209297 scopus 로고    scopus 로고
    • Sdha mutations in adult and pediatric wild-Type gastrointestinal stromal tumors
    • Oudijk L, Gaal J, Korpershoek E, et al. SDHA mutations in adult and pediatric wild-Type gastrointestinal stromal tumors. Mod Pathol 2013; 26: 456-463
    • (2013) Mod Pathol , vol.26 , pp. 456-463
    • Oudijk, L.1    Gaal, J.2    Korpershoek, E.3
  • 61
    • 79952751601 scopus 로고    scopus 로고
    • Bilateral adrenal medullary hyperplasia associated with an sdhb mutation
    • Grogan RH, Pacak K, Pasche L, Huynh TT, Greco RS. Bilateral adrenal medullary hyperplasia associated with an SDHB mutation. J Clin Oncol 2011; 29: e200-e202
    • (2011) J Clin Oncol , vol.29 , pp. e200-e202
    • Grogan, R.H.1    Pacak, K.2    Pasche, L.3    Huynh, T.T.4    Greco, R.S.5
  • 62
    • 84863208321 scopus 로고    scopus 로고
    • Somatic mutation analysis of the sdhb, sdhc, sdhd, and ret genes in the clinical assessment of sporadic and hereditary pheochromocytoma
    • Weber A, Hoffmann MM, Neumann HP, Erlic Z. Somatic mutation analysis of the SDHB, SDHC, SDHD, and RET genes in the clinical assessment of sporadic and hereditary pheochromocytoma. Horm Cancer 2012; 3: 187-192
    • (2012) Horm Cancer , vol.3 , pp. 187-192
    • Weber, A.1    Hoffmann, M.M.2    Neumann, H.P.3    Erlic, Z.4
  • 63
    • 2142744836 scopus 로고    scopus 로고
    • Reduced expression and loss of heterozygosity of the sdhd gene in colorectal and gastric cancer
    • Habano W, Sugai T, Nakamura S, et al. Reduced expression and loss of heterozygosity of the SDHD gene in colorectal and gastric cancer. Oncol Rep 2003; 10: 1375-1380
    • (2003) Oncol Rep , vol.10 , pp. 1375-1380
    • Habano, W.1    Sugai, T.2    Nakamura, S.3
  • 64
    • 84958117532 scopus 로고    scopus 로고
    • Carney triad
    • Carney JA. Carney triad. Front Horm Res 2013; 41: 92-110
    • (2013) Front Horm Res , vol.41 , pp. 92-110
    • Carney, J.A.1
  • 65
    • 84905973034 scopus 로고    scopus 로고
    • Aberrant dna hypermethylation of sdhc: A novel mechanism of tumor development in carney triad
    • Haller F, Moskalev EA, Faucz FR, et al. Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. Endocr Relat Cancer 2014; 21: 567-577
    • (2014) Endocr Relat Cancer , vol.21 , pp. 567-577
    • Haller, F.1    Moskalev, E.A.2    Faucz, F.R.3
  • 66
    • 10044296222 scopus 로고    scopus 로고
    • The mitochondrial sdhd gene is required for early embryogenesis, and its partial deficiency results in persistent carotid body glomus cell activation with full responsiveness to hypoxia
    • Piruat JI, Pintado CO, Ortega-Sáenz P, Roche M, López-Barneo J. The mitochondrial SDHD gene is required for early embryogenesis, and its partial deficiency results in persistent carotid body glomus cell activation with full responsiveness to hypoxia. Mol Cell Biol 2004; 24: 10933-10940
    • (2004) Mol Cell Biol , vol.24 , pp. 10933-10940
    • Piruat, J.I.1    Pintado, C.O.2    Ortega-Sáenz, P.3    Roche, M.4    López-Barneo, J.5
  • 67
    • 71049167689 scopus 로고    scopus 로고
    • Sdhd and sdhd/h19 knockout mice do not develop paraganglioma or pheochromocytoma
    • Bayley JP, van Minderhout I, Hogendoorn PC, et al. Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma. PLoS One 2009; 4: e7987
    • (2009) PLoS One , vol.4 , pp. e7987
    • Bayley, J.P.1    Van Minderhout, I.2    Hogendoorn, P.C.3
  • 68
    • 84898885523 scopus 로고    scopus 로고
    • A conditional mouse mutant in the tumor suppressor sdhd gene unveils a link between p21(waf1/cip1) induction and mitochondrial dysfunction
    • Millán-Uclés A, Díaz-Castro B, García-Flores P, et al. A conditional mouse mutant in the tumor suppressor SdhD gene unveils a link between p21(WAF1/Cip1) induction and mitochondrial dysfunction. PLoS One 2014; 9: e85528
    • (2014) PLoS One , vol.9 , pp. e85528
    • Millán-Uclés, A.1    Díaz-Castro, B.2    García-Flores, P.3
  • 70
    • 80053434128 scopus 로고    scopus 로고
    • Germline bap1 mutations and tumor susceptibility
    • Goldstein AM. Germline BAP1 mutations and tumor susceptibility. Nat Genet 2011; 43: 925-926
    • (2011) Nat Genet , vol.43 , pp. 925-926
    • Goldstein, A.M.1
  • 71
    • 77951765345 scopus 로고    scopus 로고
    • Subtle variations in pten dose determine cancer susceptibility
    • Alimonti A, Carracedo A, Clohessy JG, et al. Subtle variations in Pten dose determine cancer susceptibility. Nat Genet 2010; 42: 454-458
    • (2010) Nat Genet , vol.42 , pp. 454-458
    • Alimonti, A.1    Carracedo, A.2    Clohessy, J.G.3
  • 72
    • 80655130415 scopus 로고    scopus 로고
    • Pancreatic ductal and acinar cell neoplasms in carney complex: A possible new association
    • Gaujoux S, Tissier F, Ragazzon B, et al. Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association. J Clin Endocrinol Metab 2011; 96: E1888-E1895
    • (2011) J Clin Endocrinol Metab , vol.96 , pp. E1888-E1895
    • Gaujoux, S.1    Tissier, F.2    Ragazzon, B.3
  • 73
    • 77957740529 scopus 로고    scopus 로고
    • Mutation analysis of the sdhb and sdhd genes in pheochromocytomas and paragangliomas: Identification of a novel nonsense mutation (q168x) in the sdhb gene
    • Oishi Y, Nagai S, Yoshida M, et al. Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene. Endocr J 2010; 57: 745-750
    • (2010) Endocr J , vol.57 , pp. 745-750
    • Oishi, Y.1    Nagai, S.2    Yoshida, M.3
  • 74
    • 79960388891 scopus 로고    scopus 로고
    • Novel germline sdhd deletion associated with an unusual sympathetic head and neck paraganglioma
    • Cadiñanos J, Llorente JL, de la Rosa J, et al. Novel germline SDHD deletion associated with an unusual sympathetic head and neck paraganglioma. Head Neck 2011; 33: 1233-1240
    • (2011) Head Neck , vol.33 , pp. 1233-1240
    • Cadiñanos, J.1    Llorente, J.L.2    De La Rosa, J.3
  • 75
    • 77953303985 scopus 로고    scopus 로고
    • Low penetrance of a sdhb mutation in a large dutch paraganglioma family
    • Hes FJ, Weiss MM, Woortman SA, et al. Low penetrance of a SDHB mutation in a large Dutch paraganglioma family. BMC Med Genet 2010; 11: 92
    • (2010) BMC Med Genet , vol.11 , pp. 92
    • Hes, F.J.1    Weiss, M.M.2    Woortman, S.A.3
  • 76
    • 65249132204 scopus 로고    scopus 로고
    • Penetrance and clinical consequences of a gross sdhb deletion in a large family
    • Solis DC, Burnichon N, Timmers HJ, et al. Penetrance and clinical consequences of a gross SDHB deletion in a large family. Clin Genet 2009; 75: 354-363
    • (2009) Clin Genet , vol.75 , pp. 354-363
    • Solis, D.C.1    Burnichon, N.2    Timmers, H.J.3
  • 77
    • 84894556457 scopus 로고    scopus 로고
    • Pheochromocytoma and paraganglioma pathogenesis: Learning from genetic heterogeneity
    • Dahia PL. Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity. Nat Rev Cancer 2014; 14: 108-119
    • (2014) Nat Rev Cancer , vol.14 , pp. 108-119
    • Dahia, P.L.1
  • 79
    • 0034671551 scopus 로고    scopus 로고
    • Somatic and occult germ-line mutations in sdhd, a mitochondrial complex ii gene, in nonfamilial pheochromocytoma
    • 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
    • (2000) Cancer Res , vol.60 , pp. 6822-6825
    • Gimm, O.1    Armanios, M.2    Dziema, H.3    Neumann, H.P.4    Eng, C.5
  • 80
    • 84878152241 scopus 로고    scopus 로고
    • Succinate dehydrogenase mutation underlies global epigenomic divergence in gastrointestinal stromal tumor
    • Killian JK, Kim SY, Miettinen M, et al. Succinate dehydrogenase mutation underlies global epigenomic divergence in gastrointestinal stromal tumor. Cancer Discov 2013; 3: 648-657
    • (2013) Cancer Discov , vol.3 , pp. 648-657
    • Killian, J.K.1    Kim, S.Y.2    Miettinen, M.3
  • 81
    • 4143105824 scopus 로고    scopus 로고
    • Distinct clinical features of paraganglioma syndromes associated with sdhb and sdhd gene mutations
    • European-American Paraganglioma Study Group
    • Neumann HP, Pawlu C, Peczkowska M, et al.; European-American Paraganglioma Study Group. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 2004; 292: 943-951
    • (2004) JAMA , vol.292 , pp. 943-951
    • Neumann, H.P.1    Pawlu, C.2    Peczkowska, M.3
  • 82
    • 33644822473 scopus 로고    scopus 로고
    • Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes
    • Benn DE, Gimenez-Roqueplo AP, Reilly JR, et al. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab 2006; 91: 827-836
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 827-836
    • Benn, D.E.1    Gimenez-Roqueplo, A.P.2    Reilly, J.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.