Screening for pheochromocytomas and paragangliomas

Current Hypertension Reports

Volumn 14, Issue 2, 2012, Pages 130-137

  Eisenhofer, Graeme ^a  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

Adrenal; Catecholamines; Chromaffin cell tumor; Diagnosis; Dopamine; Epinephrine; Extra adrenal; Incidentaloma; Malignant; Metanephrine; Metastases; Methoxytyramine; Multiple endocrine neoplasia type 2; Neurofibromatosis; Norepinephrine; Normetanephrine; Paraganglioma; Pheochromocytoma; Screening; Succinate dehydrogenase; Von Hippel Lindau

Indexed keywords

CATECHOLAMINE; DOPAMINE; METADRENALIN; METHOXYTYRAMINE; SUCCINATE DEHYDROGENASE; UNCLASSIFIED DRUG;

ARTICLE; BIOCHEMISTRY; CANCER RISK; CANCER SCREENING; CANCER SUSCEPTIBILITY; CLINICAL FEATURE; FAMILIAL CANCER; FOLLOW UP; GENE; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; HYPERTENSION; INCIDENTALOMA; PARAGANGLIOMA; PHENOTYPE; PHEOCHROMOCYTOMA; RECURRENT DISEASE; SENSITIVITY AND SPECIFICITY; SUCCINATE DEHYDROGENASE GENE; SYMPTOM;

ADRENAL GLAND NEOPLASMS; EARLY DETECTION OF CANCER; GENETIC PREDISPOSITION TO DISEASE; GERMANY; HUMANS; MUTATION; PARAGANGLIOMA; PHEOCHROMOCYTOMA; RISK ASSESSMENT;

EID: 84861093479     PISSN: 15226417     EISSN: 15343111     Source Type: Journal    
DOI: 10.1007/s11906-012-0246-y     Document Type: Article

References (64)

1. Anderson Jr. GH, Blakeman N, Streeten DH. The effect of age on prevalence of secondary forms of hypertension in 4429 consecutively referred patients. J Hypertens. 1994;12(5):609-15. (Pubitemid 24192887)
2. Ariton M, Juan CS, AvRuskin TW. Pheochromocytoma: clinical observations from a Brooklyn tertiary hospital. Endocr Pract. 2000;6(3):249-52.
3. Omura M, Saito J, Yamaguchi K, et al. Prospective study on the prevalence of secondary hypertension among hypertensive patients visiting a general outpatient clinic in Japan. Hypertens Res. 2004;27(3):193-202. (Pubitemid 38489081)
4. Martell N, Rodriguez-Cerrillo M, Grobbee DE, et al. High prevalence of secondary hypertension and insulin resistance in patients with refractory hypertension. Blood Pres. 2003;12(3):149-54. (Pubitemid 36874763)
5. Sutton MG, Sheps SG, Lie JT. Prevalence of clinically unsuspected pheochromocytoma. Review of a 50-year autopsy series. Mayo Clin Proc. 1981;56(6):354-60. (Pubitemid 11093806)
6. McNeil AR, Blok BH, Koelmeyer TD, et al. Phaeochromocytomas discovered during coronial autopsies in Sydney, Melbourne and Auckland. Aust New Zeal J Med. 2000;30(6):648-52. (Pubitemid 32055962)
7. Lo CY, Lam KY, Wat MS, Lam KS. Adrenal pheochromocytoma remains a frequently overlooked diagnosis. Am J Surg. 2000;179 (3):212-5. (Pubitemid 30301701)
8. Walther MM, Reiter R, Keiser HR, et al. Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma. J Urol. 1999;162(3 Pt 1):659-64. (Pubitemid 29436843)
9. Mantero F, Terzolo M, Arnaldi G, et al. A survey on adrenal incidentaloma in Italy. Study Group on Adrenal Tumors of the Italian Society of Endocrinology. J Clin Endocrinol Metab. 2000;85(2):637-44.
10. Singh RJ. Advances in metanephrine testing for the diagnosis of pheochromocytoma. Clin Lab Med. 2004;24(1):85-103. (Pubitemid 38638110)
11. Pacak K, Eisenhofer G, Ahlman H, et al. Pheochromocytoma: recommendations for clinical practice from the First International Symposium. Nat Clin Pract Endocrinol Metabol. 2007;3(2):92-102. (Pubitemid 46146962)
12. Whiting MJ, Doogue MP. Advances in biochemical screening for phaeochromocytoma using biogenic amines. Clin Biochem Rev. 2009;30(1):3-17.
13. Eisenhofer G, Keiser H, Friberg P, et al. Plasma metanephrines are markers of pheochromocytoma produced by catechol-Omethyltransferase within tumors. J Clin Endocrinol Metab. 1998;83(6):2175-85. (Pubitemid 28496356)
14. Eisenhofer G, Rundquist B, Aneman A, et al. Regional release and removal of catecholamines and extraneuronal metabolism to metanephrines. J Clin Endocrinol Metab. 1995;80(10):3009-17.
15. Eisenhofer G, Huynh TT, Hiroi M, Pacak K. Understanding catecholamine metabolism as a guide to the biochemical diagnosis of pheochromocytoma. Rev Endocr Metab Disord. 2001;2(3):297-311. (Pubitemid 33640579)
16. Raber W, Raffesberg W, Bischof M, et al. Diagnostic efficacy of unconjugated plasma metanephrines for the detection of pheochromocytoma. Arch Intern Med. 2000;160(19):2957-63. (Pubitemid 32009053)
17. Lenders JW, Pacak K, Walther MM, et al. Biochemical diagnosis of pheochromocytoma: which test is best? JAMA. 2002;287 (11):1427-34. (Pubitemid 34250506)
18. Sawka AM, Jaeschke R, Singh RJ, Young Jr. WF. A comparison of biochemical tests for pheochromocytoma: measurement of fractionated plasma metanephrines compared with the combination of 24-hour urinary metanephrines and catecholamines. J Clin Endocrinol Metab. 2003;88:553-8. (Pubitemid 36207789)
19. Unger N, Pitt C, Schmidt IL, et al. Diagnostic value of various biochemical parameters for the diagnosis of pheochromocytoma in patients with adrenal mass. Eur J Endocrinol. 2006;154(3):409-17.
20. Vaclavik J, Stejskal D, Lacnak B, et al. Free plasma metanephrines as a screening test for pheochromocytoma in low-risk patients. J Hypertens. 2007;25(7):1427-31. (Pubitemid 46918830)
21. Hickman PE, Leong M, Chang J, et al. Plasma free metanephrines are superior to urine and plasma catecholamines and urine catecholamine metabolites for the investigation of phaeochromocytoma. Pathology. 2009;41(2):173-7.
22. Perry CG, Sawka AM, Singh R, et al. The diagnostic efficacy of urinary fractionated metanephrines measured by tandem mass spectrometry in detection of pheochromocytoma. Clin Endocrinol (Oxf). 2007;66(5):703-8. (Pubitemid 46699545)
23. Eisenhofer G. Free or total metanephrines for diagnosis of pheochromocytoma: what is the difference? Clin Chem. 2001;47 (6):988-9. (Pubitemid 32493582)
24. Eisenhofer G, Kopin IJ, Goldstein DS. Catecholamine metabolism: a contemporary view with implications for physiology and medicine. Pharmacol Rev. 2004;56(3):331-49. (Pubitemid 39096594)
25. Lenders JW, Keiser HR, Goldstein DS, et al. Plasma metanephrines in the diagnosis of pheochromocytoma. Ann Intern Med. 1995;123(2):101-9.
26. de Jong WH, Eisenhofer G, Post WJ, et al. Dietary influences on plasma and urinary metanephrines: implications for diagnosis of catecholamine-producing tumors. J Clin Endocrinol Metab. 2009;94(8):2841-9.
27. Yu R, Wei M. False positive test results for pheochromocytoma from 2000 to 2008. Exp Clin Endocrinol Diabetes. 2010;118 (9):577-85.
28. Peaston RT, Graham KS, Chambers E, et al. Performance of plasma free metanephrines measured by liquid chromatographytandem mass spectrometry in the diagnosis of pheochromocytoma. Clin Chim Acta. 2010;411(7-8):546-52.
29. Pillai D, Ross HA, Kratzsch J, et al. Proficiency test of plasma free and total metanephrines: report from a study group. Clin Chem Lab Med. 2009;47:786-90.
30. Pillai D, Callen S. Pilot quality assurance programme for plasma metanephrines. Ann Clin Biochem. 2010;47(Pt 2):137-42.
31. Lenders JW, Willemsen JJ, Eisenhofer G, et al. Is supine rest necessary before blood sampling for plasma metanephrines? Clin Chem. 2007;53(2):352-4. (Pubitemid 46338282)
32. Young Jr. WF. Adrenal causes of hypertension: pheochromocytoma and primary aldosteronism. Rev Endocr Metab Disord. 2007;8 (4):309-20.
33. Grossman A, Pacak K, Sawka A, et al. Biochemical diagnosis and localization of pheochromocytoma: can we reach a consensus? Ann N Y Acad Sci. 2006;1073:332-47. (Pubitemid 44912029)
34. Eisenhofer G, Goldstein DS, Walther MM, et al. Biochemical diagnosis of pheochromocytoma: how to distinguish true- from false-positive test results. J Clin Endocrinol Metab. 2003;88 (6):2656-66. (Pubitemid 36724439)
35. Eisenhofer G, Friberg P, Pacak K, et al. Plasma metadrenalines: do they provide useful information about sympatho-adrenal function and catecholamine metabolism? Clin Sci (Lond). 1995;88(5):533-42.
36. Bravo EL, Tarazi RC, Fouad FM, et al. Clonidine-suppression test: a useful aid in the diagnosis of pheochromocytoma. N Engl J Med. 1981;305(11):623-6. (Pubitemid 12201116)
37. Mannelli M, Ercolino T, Giache V, et al. Genetic screening for pheochromocytoma: should SDHC gene analysis be included? J Med Genet. 2007;44(9):586-7. (Pubitemid 47441767)
38. Bayley JP, Kunst HP, Cascon A, et al. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol. 2010;11(4):366-72.
39. Qin Y, Yao L, King EE, et al. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet. 2010;42 (3):229-33.
40. Burnichon N, Briere JJ, Libe R, et al. SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet. 2010;19:3011-20.
41. 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(7):663-7.
42. Bryant J, Farmer J, Kessler LJ, et al. Pheochromocytoma: the expanding genetic differential diagnosis. J Natl Canc Inst. 2003;95(16):1196-204. (Pubitemid 37069549)
43. Amar L, Bertherat J, Baudin E, et al. Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol. 2005;23 (34):8812-8. (Pubitemid 46211527)
44. 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(5):1541-7.
45. Friedman JM, Birch PH. Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. Am J Med Genet. 1997;70(2):138-43. (Pubitemid 27184570)
46. Eisenhofer G, Timmers H, Lenders JW, et al. Age at diagnosis of pheochromocytoma differs according to catecholamine phenotype and tumor location. J Clin Endocrinol Metab. 2011;96:375-84.
47. Gagel RF. Multiple endocrine neoplasia. In: Wilson JD, Foster DW, Kronenberg HM, Larsen PR, editors. Williams textbook of endocrinology. 9th ed. Philadelphia: WB Saunders Company; 1998. p. 1627-49.
48. Neumann HP, Bausch B, McWhinney SR, et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med. 2002;346(19):1459-66. (Pubitemid 34755714)
49. Castellano M, Mori L, Giacche M, et al. Genetic mutation screening in an Italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients. Ann N Y Acad Sci. 2006;1073:156-65. (Pubitemid 44912008)
50. 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 (3):178-83. (Pubitemid 34252553)
51. Eisenhofer G, Pacak K, Huynh TT, et al. Catecholamine metabolomic and secretory phenotypes in phaeochromocytoma. Endocr Relat Cancer. 2011;18(1):97-111.
52. Eisenhofer G, Bornstein SR, Brouwers FM, et al. Malignant pheochromocytoma: current status and initiatives for future progress. Endocr Relat Canc. 2004;11(3):423-36. (Pubitemid 39331275)
53. Eisenhofer G, Lenders JW, Siegert G, et al. Plasma methoxytyramine: a novel biomarker of metastatic pheochromocytoma and paraganglioma in relation to established risk factors of tumour size, location and SDHB mutation status. Eur J Cancer. 2011 Oct 28 (Epub ahead of print).
54. Remine W, Chong G, van Heerden J, et al. Current management of pheochromocytoma. Ann Surg. 1974;179:740-8.
55. John H, Ziegler WH, Hauri D, Jaeger P. Pheochromocytomas: can malignant potential be predicted? Urology. 1999;53(4):679-83. (Pubitemid 29163029)
56. Shen WT, Sturgeon C, Clark OH, et al. Should pheochromocytoma size influence surgical approach? a comparison of 90 malignant and 60 benign pheochromocytomas. Surgery. 2004;136(6):1127-9.
57. Ayala-Ramirez M, Feng L, Johnson MM, et al. Clinical risk factors for malignancy and overall survival in patients with pheochromocytomas and sympathetic paragangliomas: primary tumor size and primary tumor location as prognostic indicators. J Clin Endocrinol Metab. 2011;96(3):717-25.
58. Feng F, Zhu Y, Wang X, et al. Predictive factors for malignant pheochromocytoma: analysis of 136 patients. J Urol. 2011;185 (5):1583-90.
59. Park J, Song C, Park M, et al. Predictive characteristics of malignant pheochromocytoma. Korean J Urol. 2011;52(4):241-6.
60. Gimenez-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(17):5615-21. (Pubitemid 37139886)
61. Brouwers FM, Eisenhofer G, Tao JJ, et al. High frequency of SDHB germline mutations in patients with malignant catecholamineproducing paragangliomas: implications for genetic testing. J Clin Endocrinol Metab. 2006;91(11):4505-9. (Pubitemid 44833431)
62. Tippett PA, McEwan AJ, Ackery DM. A re-evaluation of dopamine excretion in phaeochromocytoma. Clin Endocrinol (Oxf). 1986;25(4):401-10. (Pubitemid 16031777)
63. Januszewicz W, Wocial B, Januszewicz A, et al. Dopamine and dopa urinary excretion in patients with pheochromocytoma-diagnostic implications. Blood Pres. 2001;10(4):212-6. (Pubitemid 33149901)
64. van der Harst E, de Herder WW, de Krijger RR, et al. The value of plasma markers for the clinical behaviour of phaeochromocytomas. Eur J Endocrinol. 2002;147(1):85-94.