Pheochromocytomas and extra-adrenal paragangliomas detected by screening in patients with SDHD-associated head-and-neck paragangliomas

Endocrine-Related Cancer

Volumn 16, Issue 2, 2009, Pages 527-536

  Havekes, B ^a   van Der Klaauw, A A ^a   Weiss, M M ^a   Jansen, J C ^a   van Der Mey, A G L ^a   Vriends, A H J T ^a   Bonsing, B A ^a   Romijn, J A ^a   Corssmit, E P M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

(3 IODOBENZYL)GUANIDINE I 123; 3 O METHYLDOPAMINE; ADRENALIN; CATECHOLAMINE; DOPAMINE; NORADRENALIN; NORMETADRENALIN; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE B; UNCLASSIFIED DRUG; VANILMANDELIC ACID; SDHB PROTEIN, HUMAN;

AGED; ARTICLE; CATECHOLAMINE EXCRETION; CATECHOLAMINE URINE LEVEL; CHEMICAL ANALYSIS; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; GENETIC ASSOCIATION; HEAD AND NECK TUMOR; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PARAGANGLIOMA; PHEOCHROMOCYTOMA; REFERENCE VALUE; REPEAT PROCEDURE; SCREENING TEST; TUMOR DIAGNOSIS; TUMOR SCINTISCANNING; ADRENAL TUMOR; ADULT; CHEMODECTOMA; CLINICAL TRIAL; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; PROGNOSIS; URINE;

ADRENAL GLAND NEOPLASMS; ADULT; AGED; CATECHOLAMINES; FEMALE; HEAD AND NECK NEOPLASMS; HUMANS; MALE; MIDDLE AGED; MUTATION; PARAGANGLIOMA, EXTRA-ADRENAL; PHEOCHROMOCYTOMA; PROGNOSIS; SUCCINATE DEHYDROGENASE;

EID: 67650477272     PISSN: 13510088     EISSN: 14796821     Source Type: Journal    
DOI: 10.1677/ERC-09-0024     Document Type: Article

References (31)

1. Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Skoldberg F, Husebye ES, Eng C & Maher ER 2001 Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. American Journal of Human Genetics 69 49-54.
2. Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der MA, Taschner PE, Rubinstein WS, Myers EN et al. 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287 848-851.
3. Benn DE & Robinson BG 2006 Genetic basis of phaeochromocytoma and paraganglioma. Best Practice and Research. Clinical Endocrinology and Metabolism 20 435-450.
4. Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O et al. 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. Journal of Clinical Endocrinology and Metabolism 91 827-836.
5. Eisenhofer G, Keiser H, Friberg P, Mezey E, Huynh TT, Hiremagalur B, Ellingson T, Duddempudi S, Eijsbouts A & Lenders JW 1998 Plasma metanephrines are markers of pheochromocytoma produced by catechol-O-methyltransferase within tumors. Journal of Clinical Endocrinology and Metabolism 83 2175-2185.
6. Eisenhofer G, Goldstein DS, Sullivan P, Csako G, Brouwers FM, Lai EW, Adams KT & Pacak K 2005 Biochemical and clinical manifestations of dopamine-producing paragangliomas: utility of plasma methoxytyramine. Journal of Clinical Endocrinology and Metabolism 90 2068-2075.
7. Erickson D, Kudva YC, Ebersold MJ, Thompson GB, Grant CS, van Heerden JA & Young WF Jr 2001 Benign paragangliomas: clinical presentation and treatment outcomes in 236 patients. Journal of Clinical Endocrinology and Metabolism 86 5210-5216.
8. van der Harst E, de Herder WW, Bruining HA, Bonjer HJ, de Krijger RR, Lamberts SW, van de Meiracker AH, Boomsma F, Stijnen T, Krenning EP et al. 2001 [(123)I]metaiodobenzylguanidine and [(111)In]octreotide uptake in benign and malignant pheochromocytomas. Journal of Clinical Endocrinology and Metabolism 86 685-693.
9. Havekes B, Corssmit EP, Jansen JC, van der Mey AG, Vriends AH & Romijn JA 2007 Malignant paragangliomas associated with mutations in the succinate dehydrogenase D gene. Journal of Clinical Endocrinology and Metabolism 92 1245-1248.
10. Hoegerle S, Nitzsche E, Altehoefer C, Ghanem N, Manz T, Brink I, Reincke M, Moser E & Neumann HP 2002 Pheochromocytomas: detection with 18F DOPA whole body PET - initial results. Radiology 222 507-512.
11. Hoegerle S, Ghanem N, Altehoefer C, Schipper J, Brink I, Moser E & Neumann HP 2003 18F-DOPA positron emission tomography for the detection of glomus tumours. European Journal of Nuclear Medicine and Molecular Imaging 30 689-694.
12. van Houtum WH, Corssmit EP, Douwes Dekker PB, Jansen JC, van der Mey AG, Brocker-Vriends AH, Taschner PE, Losekoot M, Frolich M, Stokkel MP et al. 2005 Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas. European Journal of Endocrinology 152 87-94.
13. Ilias I, Yu J, Carrasquillo JA, Chen CC, Eisenhofer G, Whatley M, McElroy B & Pacak K 2003 Superiority of 6-[18F]-fluorodopamine positron emission tomography versus [131I]-metaiodobenzylguanidine scintigraphy in the localization of metastatic pheochromocytoma. Journal of Clinical Endocrinology and Metabolism 88 4083-4087.
14. Jeffery J, Devendra D, Farrugia J, Gardner D, Murphy MJ, Williams R, Ayling RM & Wilkin TJ 2006 Increased urinary dopamine excretion in association with bilateral carotid body tumours - clinical, biochemical and genetic findings. Annals of Clinical Biochemistry 43 156-160.
15. Koch CA, Vortmeyer AO, Zhuang Z, Brouwers FM & Pacak K 2002 New insights into the genetics of familial chromaffin cell tumors. Annals of the New York Academy of Sciences 970 11-28.
16. Koch CA, Rodbard JS, Brouwers FM, Eisenhofer G & Pacak K 2003 Hypotension in a woman with a metastatic dopamine-secreting carotid body tumor. Endocrine Practice 9 310-314.
17. Lenders JW, Pacak K, Walther MM, Linehan WM, Mannelli M, Friberg P, Keiser HR, Goldstein DS & Eisenhofer G 2002 Biochemical diagnosis of pheochromocytoma: which test is best? Journal of the American Medical Association 287 1427-1434.
18. Lumachi F, Tregnaghi A, Zucchetta P, Cristina MM, Cecchin D, Grassetto G & Bui F 2006 Sensitivity and positive predictive value of CT, MRI and 123I-MIBG scintigraphy in localizing pheochromocytomas: a prospective study. Nuclear Medicine Communications 27 583-587.
19. Mackenzie IS, Gurnell M, Balan KK, Simpson H, Chatterjee K & Brown MJ 2007 The use of 18-fluoro-dihydroxyphenylalanine and 18-fluorodeoxyglucose positron emission tomography scanning in the assessment of metaiodobenzylguanidine-negative phaeochromocytoma. European Journal of Endocrinology 157 533-537.
20. van der Mey AG, Maaswinkel-Mooy PD, Cornelisse CJ, Schmidt PH & van de Kamp JJ 1989 Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory. Lancet 2 1291-1294.
21. Minguez-Castellanos A, Escamilla-Sevilla F, Hotton GR, Toledo-Aral JJ, Ortega-Moreno A, Mendez-Ferrer S, Martin-Linares JM, Katati MJ, Mir P, Villadiego J et al. 2007 Carotid body autotransplantation in Parkinson disease: a clinical and positron emission tomography study. Journal of Neurology, Neurosurgery, and Psychiatry 78 825-831.
22. Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley TA et al. 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. Journal of the American Medical Association 292 943-951.
23. Nielsen JT, Nielsen BV & Rehling M 1996 Location of adrenal medullary pheochromocytoma by I-123 metaiodobenzylguanidine SPECT. Clinical Nuclear Medicine 21 695-699.
24. Niemann S & Muller U 2000 Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nature Genetics 26 268-270.
25. Pacak K, Eisenhofer G, Carrasquillo JA, Chen CC, Li ST & Goldstein DS 2001 6-[18F]fluorodopamine positron emission tomographic (PET) scanning for diagnostic localization of pheochromocytoma. Hypertension 38 6-8.
26. Pacak K, Eisenhofer G, Ahlman H, Bornstein SR, Gimenez-Roqueplo AP, Grossman AB, Kimura N, Mannelli M, McNicol AM & Tischler AS 2007 Pheochromocytoma: recommendations for clinical practice from the First International Symposium. October 2005. Nature Clinical Practice. Endocrinology & Metabolism 3 92-102.
27. Sawka AM, Jaeschke R, Singh RJ & Young WF Jr 2003 A comparison of biochemical tests for pheochromocytoma: measurement of fractionated plasma metanephrines compared with the combination of 24-hour urinary metanephrines and catecholamines. Journal of Clinical Endocrinology and Metabolism 88 553-558.
28. Taschner PE, Jansen JC, Baysal BE, Bosch A, Rosenberg EH, Brocker-Vriends AH, Der Mey AG, van Ommen GJ, Cornelisse CJ & Devilee P 2001 Nearly all hereditary paragangliomas in The Netherlands are caused by two founder mutations in the SDHD gene. Genes, Chromosomes and Cancer 31 274-281.
29. Timmers HJ, Kozupa A, Chen CC, Carrasquillo JA, Ling A, Eisenhofer G, Adams KT, Solis D, Lenders JW & Pacak K 2007a Superiority of fluorodeoxyglucose positron emission tomography to other functional imaging techniques in the evaluation of metastatic SDHB-associated pheochromocytoma and paraganglioma. Journal of Clinical Oncology 25 2262-2269.
30. Timmers HJ, Kozupa A, Eisenhofer G, Raygada M, Adams KT, Solis D, Lenders JW & Pacak K 2007b Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas. Journal of Clinical Endocrinology and Metabolism 92 779-786.
31. Wolthers BG, Kema IP, Volmer M, Wesemann R, Westermann J & Manz B 1997 Evaluation of urinary metanephrine and normetanephrine enzyme immunoassay (ELISA) kits by comparison with isotope dilution mass spectrometry. Clinical Chemistry 43 114-120.