메뉴 건너뛰기




Volumn 292, Issue 8, 2004, Pages 943-951

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD and gene mutations

Author keywords

[No Author keywords available]

Indexed keywords

SUCCINATE DEHYDROGENASE;

EID: 4143105824     PISSN: 00987484     EISSN: None     Source Type: Journal    
DOI: 10.1001/jama.292.8.943     Document Type: Article
Times cited : (784)

References (33)
  • 1
    • 0026849378 scopus 로고
    • A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to 11q23-qter
    • Heutink P, van der Mey AGL, Sandkuijl LA, et al. A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to 11q23-qter. Hum Mol Genet. 1992;1:7-10.
    • (1992) Hum Mol Genet , vol.1 , pp. 7-10
    • Heutink, P.1    Van Der Mey, A.G.L.2    Sandkuijl, L.A.3
  • 2
    • 0027508442 scopus 로고
    • Pheochromocytomas, multiple endocrine neoplasia type 2 and von Hippel-Lindau disease
    • Neumann HPH, Berger DP, Siegmund G, et al. Pheochromocytomas, multiple endocrine neoplasia type 2 and von Hippel-Lindau disease. N Engl J Med. 1993;329:1531-1538.
    • (1993) N Engl J Med , vol.329 , pp. 1531-1538
    • Neumann, H.P.H.1    Berger, D.P.2    Siegmund, G.3
  • 3
    • 0034671551 scopus 로고    scopus 로고
    • Somatic and occult germline mutations in SDHD, a mitochondrial complex II gene, in non-familial pheochromocytomas
    • Gimm O, Armanios M, Dziema H, et al. Somatic and occult germline mutations in SDHD, a mitochondrial complex II gene, in non-familial pheochromocytomas. Cancer Res. 2000;60:6822-6825.
    • (2000) Cancer Res , vol.60 , pp. 6822-6825
    • Gimm, O.1    Armanios, M.2    Dziema, H.3
  • 4
    • 0036712593 scopus 로고    scopus 로고
    • Hereditary paraganglioma targets diverse paraganglia
    • Baysal BE. 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
  • 5
    • 0019834061 scopus 로고
    • Von Recklinghausen neurofibromatosis
    • Riccardi VM. Von Recklinghausen neurofibromatosis. N Engl J Med. 1981;305:1617-1627.
    • (1981) N Engl J Med , vol.305 , pp. 1617-1627
    • Riccardi, V.M.1
  • 6
    • 4644256817 scopus 로고    scopus 로고
    • The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET mutation consortium analysis
    • Eng C, Clayton D, Schuffenecker I, et al. 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.
    • (1996) JAMA , vol.276 , pp. 1575-1579
    • Eng, C.1    Clayton, D.2    Schuffenecker, I.3
  • 7
    • 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
  • 8
    • 0034964421 scopus 로고    scopus 로고
    • Mutations in the mitochondrial complex II subunit SDHB cause susceptibility to familial paraganglioma and pheochromocytoma
    • Astuti D, Latif F, Dallol A, et al. Mutations in the mitochondrial complex II subunit SDHB cause susceptibility to familial paraganglioma and pheochromocytoma. 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
  • 9
    • 0035991632 scopus 로고    scopus 로고
    • Identification of novel SDHD mutations in patients with pheochromocytomas and/or paragangliomas
    • Cascon A, Ruiz-Llorente S, Cebrian A, et al. Identification of novel SDHD mutations in patients with pheochromocytomas and/or paragangliomas. Eur J Hum Genet. 2002;10:457-461.
    • (2002) Eur J Hum Genet , vol.10 , pp. 457-461
    • Cascon, A.1    Ruiz-Llorente, S.2    Cebrian, A.3
  • 10
    • 0037046659 scopus 로고    scopus 로고
    • Germline mutations in non-syndromic pheochromocytoma
    • Neumann HPH, Bausch B, McWhinney SR, et al. Germline mutations in non-syndromic pheochromocytoma. N Engl J Med. 2002;346:1459-1466.
    • (2002) N Engl J Med , vol.346 , pp. 1459-1466
    • Neumann, H.P.H.1    Bausch, B.2    McWhinney, S.R.3
  • 11
    • 0035874016 scopus 로고    scopus 로고
    • Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma
    • Milunsky JM, Maher TA, Michels VV, Milunsky A. Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet. 2001;100:311-314.
    • (2001) Am J Med Genet , vol.100 , pp. 311-314
    • Milunsky, J.M.1    Maher, T.A.2    Michels, V.V.3    Milunsky, A.4
  • 12
    • 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, 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
  • 13
    • 0034998621 scopus 로고    scopus 로고
    • Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene
    • Taschner PE, Jansen JC, Baysal BE, et al. Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer. 2001;31:274-281.
    • (2001) Genes Chromosomes Cancer , vol.31 , pp. 274-281
    • Taschner, P.E.1    Jansen, J.C.2    Baysal, B.E.3
  • 14
    • 0034999087 scopus 로고    scopus 로고
    • Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss
    • Badenhop RF, Cherian S, Lord RS, et al. Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. Genes Chromosomes Cancer. 2001;31:255-263.
    • (2001) Genes Chromosomes Cancer , vol.31 , pp. 255-263
    • Badenhop, R.F.1    Cherian, S.2    Lord, R.S.3
  • 15
    • 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
  • 16
    • 0037594892 scopus 로고    scopus 로고
    • Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC
    • Niemann S, Müller U, Engelhardt D, Lohse P. Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC. Hum Genet. 2003;113:92-94.
    • (2003) Hum Genet , vol.113 , pp. 92-94
    • Niemann, S.1    Müller, U.2    Engelhardt, D.3    Lohse, P.4
  • 17
    • 0037805259 scopus 로고    scopus 로고
    • Hereditary phaeochromocytomas and paragangliomas: A study of five susceptibility genes [letter]
    • Bauters C, Vantyghem MC, Leteurtre E, et al. Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes [letter]. J Med Genet. 2003;40:E75.
    • (2003) J Med Genet , vol.40
    • Bauters, C.1    Vantyghem, M.C.2    Leteurtre, E.3
  • 18
    • 4143066223 scopus 로고    scopus 로고
    • A large SDHC genomic deletion between Alu elements causes familial and sporadic paraganglioma
    • In press
    • Baysal BE, Willett-Brozick JE, Andrade Filho PA, et al. A large SDHC genomic deletion between Alu elements causes familial and sporadic paraganglioma. J Med Genet. In press.
    • J Med Genet
    • Baysal, B.E.1    Willett-Brozick, J.E.2    Andrade Filho, P.A.3
  • 19
    • 0024404822 scopus 로고
    • Genomic imprinting in hereditary glomus tumours: Evidence for new genetic theory
    • van der Mey AG, Maaswinkel-Mooy PD, Cornelisse CJ, et al. Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory. Lancet. 1989;2:1291-1294.
    • (1989) Lancet , vol.2 , pp. 1291-1294
    • Van Der Mey, A.G.1    Maaswinkel-Mooy, P.D.2    Cornelisse, C.J.3
  • 20
    • 9144249602 scopus 로고    scopus 로고
    • Early onset renal cell carcinoma as novel extraparaganglial component of SDHB-associated hereditable paraganglioma
    • McWhinney SR, Buchta M, Vanharanta S, et al. Early onset renal cell carcinoma as novel extraparaganglial component of SDHB-associated hereditable paraganglioma. Am J Hum Genet. 2004;74: 153-159.
    • (2004) Am J Hum Genet , vol.74 , pp. 153-159
    • McWhinney, S.R.1    Buchta, M.2    Vanharanta, S.3
  • 21
    • 0036798174 scopus 로고    scopus 로고
    • The pressure rises: Update on the genetics of pheochromocytoma
    • Maher ER, Eng C. The pressure rises: update on the genetics of pheochromocytoma. Hum Mol Genet. 2002;11:2347-2354.
    • (2002) Hum Mol Genet , vol.11 , pp. 2347-2354
    • Maher, E.R.1    Eng, C.2
  • 22
    • 18344381765 scopus 로고    scopus 로고
    • Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas
    • Baysal BE, Willett-Brozick JE, Lawrence EC, et al. Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Genet. 2002;39:178-183.
    • (2002) J Med Genet , vol.39 , pp. 178-183
    • Baysal, B.E.1    Willett-Brozick, J.E.2    Lawrence, E.C.3
  • 23
    • 0141704510 scopus 로고    scopus 로고
    • Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas
    • Giminez-Roqueplo AP, Favier J, Rustin P, et al. 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
    • Giminez-Roqueplo, A.P.1    Favier, J.2    Rustin, P.3
  • 24
    • 0037364314 scopus 로고    scopus 로고
    • A role for mitochondrial enzymes in inherited neoplasia and beyond
    • Eng C, Kiuru M, Fernandez MJ, Aaltonen LA. A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer. 2003;3:193-202.
    • (2003) Nat Rev Cancer , vol.3 , pp. 193-202
    • Eng, C.1    Kiuru, M.2    Fernandez, M.J.3    Aaltonen, L.A.4
  • 25
    • 0035528831 scopus 로고    scopus 로고
    • 6-[18F]fluorodopamine positron emission tomographic (PET) scanning for diagnostic localization of pheochromocytoma
    • Pacak K, Eisenhofer G, Carasquillo JA, et al. 6-[18F]fluorodopamine positron emission tomographic (PET) scanning for diagnostic localization of pheochromocytoma. Hypertension. 2001;38:6-8.
    • (2001) Hypertension , vol.38 , pp. 6-8
    • Pacak, K.1    Eisenhofer, G.2    Carasquillo, J.A.3
  • 26
    • 0036007324 scopus 로고    scopus 로고
    • Pheochromocytomas: Detection with 18F DOPA whole-body PET: Initial results
    • Hoegerle S, Nitzsche E, Altehöfer C, et al. Pheochromocytomas: detection with 18F DOPA whole-body PET: initial results. Radiology. 2002;222:507-512.
    • (2002) Radiology , vol.222 , pp. 507-512
    • Hoegerle, S.1    Nitzsche, E.2    Altehöfer, C.3
  • 27
    • 0038245162 scopus 로고    scopus 로고
    • 18F-DOPA positron emission tomography for detection of glomus tumours: Comparison to MRI
    • Hoegerle S, Ghanem N, Altehoefer C, et al. 18F-DOPA positron emission tomography for detection of glomus tumours: comparison to MRI. Eur J Nucl Med. 2002;30:689-694.
    • (2002) Eur J Nucl Med , vol.30 , pp. 689-694
    • Hoegerle, S.1    Ghanem, N.2    Altehoefer, C.3
  • 28
    • 0033577985 scopus 로고    scopus 로고
    • Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2
    • Eisenhofer G, Lenders JW, Linehan WM, et al. Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. N Engl J Med. 1999;340:1872-1879.
    • (1999) N Engl J Med , vol.340 , pp. 1872-1879
    • Eisenhofer, G.1    Lenders, J.W.2    Linehan, W.M.3
  • 29
    • 0037323423 scopus 로고    scopus 로고
    • A comparison of biochemical tests for pheochromocytoma: Measurement of fractionated plasma meta-nephrines compared with the combination of 24-hour urinary metanephrines and catecholamines
    • Sawka AM, Jaeschke R, Singh RJ, Young WF. A comparison of biochemical tests for pheochromocytoma: measurement of fractionated plasma meta-nephrines compared with the combination of 24-hour urinary metanephrines and catecholamines. J Clin Endocrinol Metab. 2003;88:553-558.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 553-558
    • Sawka, A.M.1    Jaeschke, R.2    Singh, R.J.3    Young, W.F.4
  • 30
    • 0032323695 scopus 로고    scopus 로고
    • Laparoscopic surgery for pheochromocytoma: Adrenalectomy, partial resection, excision of paragangliomas
    • Janetschek G, Finkenstedt G, Gasser R, et al. Laparoscopic surgery for pheochromocytoma: adrenalectomy, partial resection, excision of paragangliomas. J Urol. 1998;160:330-334.
    • (1998) J Urol , vol.160 , pp. 330-334
    • Janetschek, G.1    Finkenstedt, G.2    Gasser, R.3
  • 31
    • 0032893034 scopus 로고    scopus 로고
    • Adrenal sparing surgery for pheochromocytoma
    • Neumann HPH, Bender BU, Reincke M, et al. Adrenal sparing surgery for pheochromocytoma. Br J Surg. 1999;84:94-97.
    • (1999) Br J Surg , vol.84 , pp. 94-97
    • Neumann, H.P.H.1    Bender, B.U.2    Reincke, M.3
  • 32
    • 0033328878 scopus 로고    scopus 로고
    • Preserved adrenocortical function after laparoscopic bilateral adrenal sparing surgery for hereditary pheochromocytoma
    • Neumann HPH, Reincke M, Bender BU, et al. Preserved adrenocortical function after laparoscopic bilateral adrenal sparing surgery for hereditary pheochromocytoma. J Clin Endocrinol Metab. 1999;84: 2608-2610.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 2608-2610
    • Neumann, H.P.H.1    Reincke, M.2    Bender, B.U.3
  • 33
    • 0036691720 scopus 로고    scopus 로고
    • Endoscopic treatment of solitary, bilateral multiple, and recurrent pheochromocytomas and paragangliomas
    • Walz MK, Peitgen K, Neumann HPH, et al. Endoscopic treatment of solitary, bilateral multiple, and recurrent pheochromocytomas and paragangliomas. World J Surg. 2002;26:1005-1012.
    • (2002) World J Surg , vol.26 , pp. 1005-1012
    • Walz, M.K.1    Peitgen, K.2    Neumann, H.P.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.