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Volumn 12, Issue 6, 2010, Pages 456-464

Genetic testing for pheochromocytoma

Author keywords

Catecholamines; Genetic testing; Immunohistochemistry; Multiple endocrine neoplasia type 2; Neurofibromatosis type 1; Paraganglioma; Pheochromocytoma; Succinate dehydrogenase complex genes; Von Hippel Lindau disease

Indexed keywords

CATECHOLAMINE; METADRENALIN; NEUROFIBROMIN; PHENYLETHANOLAMINE N METHYLTRANSFERASE; PROTEIN RET; SUCCINATE DEHYDROGENASE; VON HIPPEL LINDAU PROTEIN;

EID: 78649904726     PISSN: 15226417     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11906-010-0151-1     Document Type: Review
Times cited : (53)

References (52)
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    • 1:CAS:528:DC%2BD1cXhtFWit7%2FK 10.1093/jnci/djn254 18728283 These authors investigated whether germline mutations in SDH subunit genes (SDHB, SDHC, SDHD) were associated with renal cell carcinoma (RCC) susceptibility in 68 patients with no clinical evidence of an RCC susceptibility syndrome. No mutations in SDHC or SDHD were identified in probands, but 3 (4.4%) of the 68 probands had a germline SDHB mutation
    • C Ricketts ER Woodward P Killick, et al. 2008 Germline SDHB mutations and familial renal cell carcinoma J Natl Cancer Inst 100 1260 1262 1:CAS:528:DC%2BD1cXhtFWit7%2FK 10.1093/jnci/djn254 18728283 These authors investigated whether germline mutations in SDH subunit genes (SDHB, SDHC, SDHD) were associated with renal cell carcinoma (RCC) susceptibility in 68 patients with no clinical evidence of an RCC susceptibility syndrome. No mutations in SDHC or SDHD were identified in probands, but 3 (4.4%) of the 68 probands had a germline SDHB mutation
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    • Ricketts, C.1    Woodward, E.R.2    Killick, P.3
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    • Loss of SDHB and NF1 genes in a malignant phyllodes tumor of the breast as detected by oligo-array comparative genomic hybridization
    • 1:CAS:528:DC%2BD1MXhsFykurzI 10.1016/j.cancergencyto.2009.09.005 20082856
    • J Lee J Wang M Torbenson, et al. 2010 Loss of SDHB and NF1 genes in a malignant phyllodes tumor of the breast as detected by oligo-array comparative genomic hybridization Cancer Genet Cytogenet 196 179 183 1:CAS:528: DC%2BD1MXhsFykurzI 10.1016/j.cancergencyto.2009.09.005 20082856
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    • Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
    • Neumann HP, Pawlu C, Peczkowska M, et al.: Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 2004, 292:943-951.
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    • Neumann, H.P.1    Pawlu, C.2    Peczkowska, M.3
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    • Erratum
    • Erratum in: JAMA 2004, 292:1686.
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    • High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: Implications for genetic testing
    • DOI 10.1210/jc.2006-0423
    • FM Brouwers G Eisenhofer JJ Tao, et al. 2006 High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing J Clin Endocrinol Metab 91 4505 4509 1:CAS:528:DC%2BD28Xht1WhurjN 10.1210/jc.2006-0423 16912137 (Pubitemid 44833431)
    • (2006) Journal of Clinical Endocrinology and Metabolism , vol.91 , Issue.11 , pp. 4505-4509
    • Brouwers, F.M.1    Eisenhofer, G.2    Tao, J.J.3    Kant, J.A.4    Adams, K.T.5    Linehan, W.M.6    Pacak, K.7
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    • Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD
    • 1:CAS:528:DC%2BC3cXhtFKmt7o%3D 10.1002/humu.21136 19802898 Authors assessed 358 patients with SDHB (n∈=∈295) and SDHD (n∈=∈63) mutations. At age 60 years, the risk of head and neck PGL in SDHB mutation carriers was 29% and the risk of PHEO was 52%; in SDHD mutation carriers, the risks were and 71% and 29%, respectively. Risks of malignant PHEO and renal tumors (14% at age 70 years) were higher in SDHB mutation carriers. No clear genotype-phenotype correlations were detected for SDHB mutations
    • CJ Ricketts JR Forman E Rattenberry, et al. 2010 Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD Hum Mutat 31 41 51 1:CAS:528:DC%2BC3cXhtFKmt7o%3D 10.1002/humu.21136 19802898 Authors assessed 358 patients with SDHB (n∈=∈295) and SDHD (n∈=∈63) mutations. At age 60 years, the risk of head and neck PGL in SDHB mutation carriers was 29% and the risk of PHEO was 52%; in SDHD mutation carriers, the risks were and 71% and 29%, respectively. Risks of malignant PHEO and renal tumors (14% at age 70 years) were higher in SDHB mutation carriers. No clear genotype-phenotype correlations were detected for SDHB mutations
    • (2010) Hum Mutat , vol.31 , pp. 41-51
    • Ricketts, C.J.1    Forman, J.R.2    Rattenberry, E.3
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    • 77951974895 scopus 로고    scopus 로고
    • Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes
    • 1:CAS:528:DC%2BC3cXmtFWlu7k%3D 10.1016/j.humpath.2009.12.005 20236688 These authors defined positive, weak diffuse, and negative immunohistochemistry staining for SDHB. All 12 SDH mutated tumors (6 SDHB, 5 SDHD, and 1 SDHC) showed weak diffuse or negative staining, whereas 9 of 10 tumors with known mutations of VHL, RET, or NF1 showed positive staining. One VHL-associated tumor showed weak diffuse staining; one PGL with no known SDH mutation but clinical features suggesting familial disease was negative, and one showed weak diffuse staining
    • AJ Gill DE Benn A Chou, et al. 2010 Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes Hum Pathol 41 805 814 1:CAS:528:DC%2BC3cXmtFWlu7k%3D 10.1016/j.humpath.2009.12.005 20236688 These authors defined positive, weak diffuse, and negative immunohistochemistry staining for SDHB. All 12 SDH mutated tumors (6 SDHB, 5 SDHD, and 1 SDHC) showed weak diffuse or negative staining, whereas 9 of 10 tumors with known mutations of VHL, RET, or NF1 showed positive staining. One VHL-associated tumor showed weak diffuse staining; one PGL with no known SDH mutation but clinical features suggesting familial disease was negative, and one showed weak diffuse staining
    • (2010) Hum Pathol , vol.41 , pp. 805-814
    • Gill, A.J.1    Benn, D.E.2    Chou, A.3
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    • 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
    • 10.1016/S1470-2045(09)70164-0 19576851 Immunohistochemistry for SDHB was done on 220 tumors. SDHB protein expression was absent in all 102 PHEOs and PGLs with an SDHB, SDHC, or SDHD mutation, but was present in all 65 tumors related to MEN 2, VHL, and NF1. Of the 53 PHEOs or PGLs with no syndromic germline mutation, 47 (89%) showed SDHB expression. The SDHB immunohistochemistry was 100% sensitive (95% CI, 87%-100%) in detecting the presence of an SDH mutation in the prospective series, and 84% specific (95% CI, 60%-97%)
    • FH van Nederveen J Gaal J Favier, et al. 2009 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 10 764 771 10.1016/S1470-2045(09)70164-0 19576851 Immunohistochemistry for SDHB was done on 220 tumors. SDHB protein expression was absent in all 102 PHEOs and PGLs with an SDHB, SDHC, or SDHD mutation, but was present in all 65 tumors related to MEN 2, VHL, and NF1. Of the 53 PHEOs or PGLs with no syndromic germline mutation, 47 (89%) showed SDHB expression. The SDHB immunohistochemistry was 100% sensitive (95% CI, 87%-100%) in detecting the presence of an SDH mutation in the prospective series, and 84% specific (95% CI, 60%-97%)
    • (2009) Lancet Oncol , vol.10 , pp. 764-771
    • Van Nederveen, F.H.1    Gaal, J.2    Favier, J.3
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    • Genetics of pheochromocytoma and paraganglioma in Spanish patients
    • 10.1210/jc.2008-2756 19258401 This study analyzed 237 nonrelated probands for the major susceptibility genes: VHL, RET, SDHB, SDHC, and SDHD. All syndromic probands were genetically diagnosed with a mutation affecting either RET or VHL. A total of 79.1% of patients presenting with nonsyndromic familial antecedents and 18.4% of those with apparently sporadic presentation were found to carry a mutation in one of the susceptibility genes
    • A Cascón G Pita N Burnichon, et al. 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients J Clin Endocrinol Metab 94 1701 1705 10.1210/jc.2008-2756 19258401 This study analyzed 237 nonrelated probands for the major susceptibility genes: VHL, RET, SDHB, SDHC, and SDHD. All syndromic probands were genetically diagnosed with a mutation affecting either RET or VHL. A total of 79.1% of patients presenting with nonsyndromic familial antecedents and 18.4% of those with apparently sporadic presentation were found to carry a mutation in one of the susceptibility genes
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 1701-1705
    • Cascón, A.1    Pita, G.2    Burnichon, N.3
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    • Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients
    • 1:CAS:528:DC%2BD1MXhtlyqsb7J 10.1158/1078-0432.CCR-09-1237 19825962 Of 989 apparently nonsyndromic PHEOs, 187 (19%) harbored germline mutations. Predictors for the presence of mutation were estimated: age less than 45 years, multiple PHEOs, extra-adrenal location, and previous head-and-neck PGL
    • Z Erlic L Rybicki M Peczkowska, et al. 2009 Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients Clin Cancer Res 15 6378 6385 1:CAS:528:DC%2BD1MXhtlyqsb7J 10.1158/1078-0432.CCR-09-1237 19825962 Of 989 apparently nonsyndromic PHEOs, 187 (19%) harbored germline mutations. Predictors for the presence of mutation were estimated: age less than 45 years, multiple PHEOs, extra-adrenal location, and previous head-and-neck PGL
    • (2009) Clin Cancer Res , vol.15 , pp. 6378-6385
    • Erlic, Z.1    Rybicki, L.2    Peczkowska, M.3


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