Diagnosis of endocrine disease: Biochemical diagnosis of phaeochromocytoma and paraganglioma

European Journal of Endocrinology

Volumn 170, Issue 3, 2014, Pages

  Van Berkel, A ^a   Lenders, J W M ^a,b   Timmers, H J L M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

3 O METHYLDOPAMINE; ADRENALIN; ANTIHYPERTENSIVE AGENT; BUSPIRONE; CLONIDINE; DOPAMINE; LABETALOL; MESALAZINE; METADRENALIN; NORADRENALIN; NORMETADRENALIN; SALAZOSULFAPYRIDINE; SEROTONIN NORADRENALIN REUPTAKE INHIBITOR; SEROTONIN UPTAKE INHIBITOR; SUCCINATE DEHYDROGENASE (UBIQUINONE); TRICYCLIC ANTIDEPRESSANT AGENT; VANILMANDELIC ACID;

ADRENAL INCIDENTALOMA; BIOCHEMISTRY; BLOOD ANALYSIS; CARDIOVASCULAR DISEASE; CATECHOLAMINE RELEASE; CATECHOLAMINE SYNTHESIS; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; DIAGNOSTIC TEST ACCURACY STUDY; DRUG USE; EARLY DIAGNOSIS; ELECTROCHEMICAL DETECTION; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FOOD COMPOSITION; GENE; GENE MUTATION; GENETIC PREDISPOSITION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LIQUID CHROMATOGRAPHY; MEDICAL DECISION MAKING; PARAGANGLIOMA; PHEOCHROMOCYTOMA; PREDICTION; PRIORITY JOURNAL; REVIEW; SDHB GENE; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; TUMOR LOCALIZATION; TUMOR VOLUME; URINALYSIS;

ADRENAL GLAND NEOPLASMS; ADULT; CATECHOLAMINES; DOPAMINE; FALSE NEGATIVE REACTIONS; FALSE POSITIVE REACTIONS; HUMANS; METANEPHRINE; MIDDLE AGED; NORMETANEPHRINE; PARAGANGLIOMA; PHEOCHROMOCYTOMA; TUMOR MARKERS, BIOLOGICAL;

EID: 84896310616     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-13-0882     Document Type: Review

References (71)

1. DeLellis RA, Lloyd RV, Heitz PU & Eng C. (Eds) World Health Organization Classification Classification of Tumours: Pathology and Genetics of Tumours of Endocrine Organs, pp 147-166. Lyon, France: IARC Press, 2004.
2. Lenders JW, Eisenhofer G, Mannelli M & Pacak K. Phaeochromocytoma. Lancet 2005 366 665-675. (doi:10.1016/S0140-6736(05)67139-5)
3. Eisenhofer G, Pacak K, Maher ER, Young WF & de Krijger RR. Pheochromocytoma. Clinical Chemistry 2013 59 466-472. (doi:10.1373/clinchem. 2013.208017)
4. Fliedner SM, Lehnert H & Pacak K. Metastatic paraganglioma. Seminars in Oncology 2010 37 627-637. (doi:10.1053/j.seminoncol.2010.10.017)
5. Mazzaglia PJ. Hereditary pheochromocytoma and paraganglioma. Journal of Surgical Oncology 2012 106 580-585. (doi:10.1002/jso.23157)
6. Gimenez-Roqueplo AP, Dahia PL & Robledo M. An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. Hormone and Metabolic Research 2012 44 328-333. (doi:10.1055/s-0031-1301302)
7. Dahia PL. Novel hereditary forms of pheochromocytomas and paragangliomas. Frontiers of Hormone Research 2013 41 79-91. (doi:10.1159/000345671)
8. Welander J, Soderkvist P & Gimm O. Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocrine-Related Cancer 2011 18 R253-R276. (doi:10.1530/ERC-11-0170)
9. Buffet A, Venisse A, Nau V, Roncellin I, Boccio V, Le Pottier N, Boussion M, Travers C, Simian C, Burnichon N et al. A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma. Hormone and Metabolic Research 2012 44 359-366. (doi:10.1055/s-0032-1304594)
10. Burnichon N, Buffet A, Parfait B, Letouze E, Laurendeau I, Loriot C, Pasmant E, Abermil N, Valeyrie-Allanore L, Bertherat J et al. Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma. Human Molecular Genetics 2012 21 5397-5405. (doi:10.1093/hmg/dds374)
11. Burnichon N, Vescovo L, Amar L, Libe R, de Reynies A, Venisse A, Jouanno E, Laurendeau I, Parfait B, Bertherat J et al. Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Human Molecular Genetics 2011 20 3974-3985. (doi:10.1093/hmg/ddr324)
12. Zhuang Z, Yang C, Lorenzo F, Merino M, Fojo T, Kebebew E, Popovic V, Stratakis CA, Prchal JT & Pacak K. Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. New England Journal of Medicine 2012 367 922-930. (doi:10.1056/NEJMoa1205119)
13. Mannelli M, Lenders JW, Pacak K, Parenti G & Eisenhofer G. Subclinical phaeochromocytoma. Best Practice & Research. Clinical Endocrinology & Metabolism 2012 26 507-515. (doi:10.1016/j.beem.2011.10.008)
14. Eisenhofer G, Rivers G, Rosas AL, Quezado Z, Manger WM & Pacak K. Adverse drug reactions in patients with phaeochromocytoma: incidence, prevention and management. Drug Safety 2007 30 1031-1062. (doi:10.2165/00002018-200730110- 00004)
15. Manger WM. The vagaries of pheochromocytomas. American Journal of Hypertension 2005 18 1266-1270. (doi:10.1016/j.amjhyper.2005.06.026)
16. Zelinka T, Eisenhofer G & Pacak K. Pheochromocytoma as a catecholamine producing tumor: implications for clinical practice. Stress 2007 10 195-203. (doi:10.1080/10253890701395896)
17. Brouwers FM, Lenders JW, Eisenhofer G& Pacak K. Pheochromocytoma as an endocrine emergency. Reviews in Endocrine and Metabolic Disorders 2003 4 121-128. (doi:10.1023/A:1022981801344)
18. Prejbisz A, Lenders JW, Eisenhofer G & Januszewicz A. Cardiovascular manifestations of phaeochromocytoma. Journal of Hypertension 2011 29 2049-2060. (doi:10.1097/HJH.0b013e32834a4ce9)
19. Stolk RF, Bakx C, Mulder J, Timmers HJ & Lenders JW. Is the excess cardiovascular morbidity in pheochromocytoma related to blood pressure or to catecholamines? Journal of Clinical Endocrinology and Metabolism 2013 98 1100-1106. (doi:10.1210/jc.2012-3669)
20. Eisenhofer G, Pacak K, Huynh TT, Qin N, Bratslavsky G, Linehan WM, Mannelli M, Friberg P, Grebe SK, Timmers HJ et al. Catecholamine metabolomic and secretory phenotypes in phaeochromocytoma. Endocrine-Related Cancer 2011 18 97-111. (doi:10.1677/ERC-10-0211)
21. Eisenhofer G, Kopin IJ & Goldstein DS. Catecholamine metabolism: a contemporary view with implications for physiology and medicine. Pharmacological Review 2004 56 331-349. (doi:10.1124/pr.56.3.1)
22. Young WF Jr. Clinical practice. The incidentally discovered adrenal mass. New England Journal of Medicine 2007 356 601-610. (doi:10.1056/NEJMcp065470)
23. Shah U, Giubellino A & Pacak K. Pheochromocytoma: implications in tumorigenesis and the actual management. Minerva Endocrinologica 2012 37 141-156.
24. Lenders JW, Pacak K, Walther MM, Linehan WM, Mannelli M, Friberg P, Keiser HR, Goldstein DS & Eisenhofer G. Biochemical diagnosis of pheochromocytoma: which test is best? Journal of the American Medical Association 2002 287 1427-1434. (doi:10.1001/jama.287.11.1427)
25. Peaston RT & Weinkove C. Measurement of catecholamines and their metabolites. Annals of Clinical Biochemistry 2004 41 17-38. (doi:10.1258/ 000456304322664663)
26. Lenders JW, Eisenhofer G, Armando I, Keiser HR, Goldstein DS & Kopin IJ. Determination of metanephrines in plasma by liquid chromatography with electrochemical detection. Clinical Chemistry 1993 39 97-103. (Pubitemid 23034964)
27. de Jong WH, de Vries EG & Kema IP. Current status and future developments of LC-MS/MS in clinical chemistry for quantification of biogenic amines. Clinical Biochemistry 2011 44 95-103. (doi:10.1016/j.clinbiochem.2010. 07.006)
28. Perry CG, Sawka AM, Singh R, Thabane L, Bajnarek J & Young WF Jr. The diagnostic efficacy of urinary fractionated metanephrines measured by tandem mass spectrometry in detection of pheochromocytoma. Clinical Endocrinology 2007 66 703-708. (doi:10.1111/j.1365-2265.2007.02805.x)
29. de Jong WH, Graham KS, van der Molen JC, Links TP, Morris MR, Ross HA, de Vries EG & Kema IP. Plasma free metanephrine measurement using automated online solid-phase extraction HPLC tandem mass spectrometry. Clinical Chemistry 2007 53 1684-1693. (doi:10.1373/clinchem.2007.087114)
30. Peaston RT, Graham KS, Chambers E, van der Molen JC & Ball S. Performance of plasma free metanephrines measured by liquid chromatography- tandem mass spectrometry in the diagnosis of pheochromocytoma. Clinica Chimica Acta 2010 411 546-552. (doi:10.1016/j.cca.2010.01.012)
31. Petteys BJ, Graham KS, Parnas ML, Holt C & Frank EL. Performance characteristics of an LC-MS/MS method for the determination of plasma metanephrines. Clinica Chimica Acta 2012 413 1459-1465. (doi:10.1016/j.cca.2012. 06.006)
32. Grouzmann E, Drouard-Troalen L, Baudin E, Plouin PF, Muller B, Grand D & Buclin T. Diagnostic accuracy of free and total metanephrines in plasma and fractionated metanephrines in urine of patients with pheochromocytoma. European Journal of Endocrinology 2010 162 951-960. (doi:10.1530/EJE-09-0996)
33. Eisenhofer G, Keiser H, Friberg P, Mezey E, Huynh TT, Hiremagalur B, Ellingson T, Duddempudi S, Eijsbouts A & Lenders JW. Plasma metanephrines are markers of pheochromocytoma produced by catechol-O-methyltransferase within tumors. Journal of Clinical Endocrinology and Metabolism 1998 83 2175-2185. (doi:10.1210/jc.83.6.2175)
34. Crout JR & Sjoerdsma A. Turnover and metabolism of catecholamines in patients with pheochromocytoma. Journal of Clinical Investigation 1964 43 94-102. (doi:10.1172/JCI104898)
35. Raber W, Raffesberg W, Bischof M, Scheuba C, Niederle B, Gasic S, Waldhausl W & Roden M. Diagnostic efficacy of unconjugated plasma metanephrines for the detection of pheochromocytoma. Archives of Internal Medicine 2000 160 2957-2963. (doi:10.1001/archinte.160.19.2957)
36. Eisenhofer G, Lenders JW, Linehan WM, Walther MM, Goldstein DS & Keiser HR. Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. New England Journal of Medicine 1999 340 1872-1879. (doi:10.1056/ NEJM199906173402404)
37. Gerlo EA & Sevens C. Urinary and plasma catecholamines and urinary catecholamine metabolites in pheochromocytoma: diagnostic value in 19 cases. Clinical Chemistry 1994 40 250-256. (Pubitemid 24072583)
38. Gardet V, Gatta B, Simonnet G, Tabarin A, Chene G, Ducassou D & Corcuff JB. Lessons from an unpleasant surprise: a biochemical strategy for the diagnosis of pheochromocytoma. Journal of Hypertension 2001 19 1029-1035. (doi:10.1097/00004872-200106000-00006)
39. Sawka AM, Jaeschke R, Singh RJ & Young WF Jr. 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 2003 88 553-558. (doi:10.1210/jc.2002-021251)
40. Davidson DF. Phaeochromocytoma with normal urinary catecholamines: the potential value of urinary free metadrenalines. Annals of Clinical Biochemistry 2002 39 557-566. (doi:10.1258/000456302760413333)
41. Sawka AM, Prebtani AP, Thabane L, Gafni A, Levine M & Young WF Jr. A systematic review of the literature examining the diagnostic efficacy of measurement of fractionated plasma free metanephrines in the biochemical diagnosis of pheochromocytoma. BMC Endocrine Disorder 2004 4 2. (doi:10.1186/1472-6823-4-2)
42. Chen H, Sippel RS, O'Dorisio MS, Vinik AI, Lloyd RV & Pacak K. The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer. Pancreas 2010 39 775-783. (doi:10.1097/MPA.0b013e3181ebb4f0)
43. Pacak K, Eisenhofer G, Ahlman H, Bornstein SR, Gimenez-Roqueplo AP, Grossman AB, Kimura N, Mannelli M, McNicol AM & Tischler AS. Pheochromocytoma: recommendations for clinical practice from the First International Symposium. October 2005. Nature Clinical Practice. Endocrinology & Metabolism 2007 3 92-102. (doi:10.1038/ncpendmet0396)
44. Lenders JW, Willemsen JJ, Eisenhofer G, Ross HA, Pacak K, Timmers HJ & Sweep CG. Is supine rest necessary before blood sampling for plasma metanephrines? Clinical Chemistry 2007 53 352-354. (doi:10.1373/clinchem.2006. 076489)
45. de Jong WH, Eisenhofer G, Post WJ, Muskiet FA, de Vries EG & Kema IP. Dietary influences on plasma and urinary metanephrines: implications for diagnosis of catecholamine-producing tumors. Journal of Clinical Endocrinology and Metabolism 2009 94 2841-2849. (doi:10.1210/jc.2009-0303)
46. Davidson FD. Paracetamol-associated interference in an HPLC-ECD assay for urinary free metadrenalines and catecholamines. Annals of Clinical Biochemistry 2004 41 316-320. (doi:10.1258/0004563041201626)
47. Bouloux PM & Perrett D. Interference of labetalol metabolites in the determination of plasma catecholamines by HPLC with electrochemical detection. Clinica Chimica Acta 1985 150 111-117. (doi:10.1016/0009-8981(85)90261-X)
48. Cook FJ, Chandler DW & Snyder DK. Effect of buspirone on urinary catecholamine assays. New England Journal of Medicine 1995 332 401. (doi:10.1056/NEJM199502093320617)
49. Ito T, Imai T, Kikumori T, Shibata A, Horiba T, Kobayashi H, Sawaki M, Watanabe R, Nakao A & Kiuchi T. Adrenal incidentaloma: review of 197 patients and report of a drug-related false-positive urinary normetanephrine result. Surgery Today 2006 36 961-965. (doi:10.1007/s00595-006-3291-9)
50. Bouhanick B, Fauvel J & Pont F. Biochemical misdiagnosis of pheochromocytoma in patients treated with sulfasalazine. Journal of the American Medical Association 2010 304 1898-1901. (doi:10.1001/ jama.2010.1563)
51. Grebe SK & Singh RJ. LC-MS/MS in the clinical laboratory - where to from here? Clinical Biochemist. Reviews 2011 32 5-31.
52. Eisenhofer G, Goldstein DS, Walther MM, Friberg P, Lenders JW, Keiser HR & Pacak K. Biochemical diagnosis of pheochromocytoma: how to distinguish true- from false-positive test results. Journal of Clinical Endocrinology and Metabolism 2003 88 2656-2666. (doi:10.1210/jc.2002-030005)
53. Grassi G, Seravalle G, Calhoun DA, Bolla G & Mancia G. Cigarette smoking and the adrenergic nervous system. Clinical and Experimental Hypertension. Part A, Theory and Practice 1992 14 251-260. (doi:10.3109/ 10641969209036186)
54. Neary NM, King KS & Pacak K. Drugs and pheochromocytoma - don't be fooled by every elevated metanephrine. New England Journal of Medicine 2011 364 2268-2270. (doi:10.1056/NEJMc1101502)
55. Rosano TG, Eisenhofer G & Whitley RJ. Catecholamines and serotonin. In Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, p 2448. Eds CA Burtis, ER Ashwood & DE Bruns, St. Louis, MO: Elsevier Saunders, 2006.
56. Pacak K. Preoperative management of the pheochromocytoma patient. Journal of Clinical Endocrinology and Metabolism 2007 92 4069-4079. (doi:10.1210/jc.2007-1720)
57. Eisenhofer G, Brown S, Peitzsch M, Pelzel D, Lattke P, Glockner S, Stell A, Prejbisz A, Fassnacht M, Beuschlein F et al. Levodopa therapy in Parkinson's disease: influence on liquid chromatographic tandem mass spectrometric-based measurements of plasma and urinary normetanephrine, metanephrine and methoxytyramine. Annals of Clinical Biochemistry 2014 51 (Pt 1) 38-46. (doi:10.1177/0004563213487894)
58. Proye C, Fossati P, Fontaine P, Lefebvre J, Decoulx M, Wemeau JL, Dewailly D, Rwamasirabo E & Cecat P. Dopamine-secreting pheochromocytoma: an unrecognized entity? Classification of pheochromocytomas according to their type of secretion. Surgery 1986 100 1154-1162. (Pubitemid 17223236)
59. Eisenhofer G, Goldstein DS, Sullivan P, Csako G, Brouwers FM, Lai EW, Adams KT & Pacak K. Biochemical and clinical manifestations of dopamine-producing paragangliomas: utility of plasma methoxytyramine. Journal of Clinical Endocrinology and Metabolism 2005 90 2068-2075. (doi:10.1210/jc.2004- 2025)
60. Timmers HJ, Pacak K, Huynh TT, Abu-Asab M, Tsokos M, Merino MJ, Baysal BE, Adams KT & Eisenhofer G. Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene. Journal of Clinical Endocrinology and Metabolism 2008 93 4826-4832. (doi:10.1210/jc.2008-1093)
61. Hsiao RJ, Parmer RJ, Takiyyuddin MA & O'Connor DT. Chromogranin A storage and secretion: sensitivity and specificity for the diagnosis of pheochromocytoma. Medicine 1991 70 33-45. (doi:10.1097/00005792-199101000-00003)
62. Bilek R, Safarik L, Ciprova V, Vlcek P & Lisa L. Chromogranin A, a member of neuroendocrine secretory proteins as a selective marker for laboratory diagnosis of pheochromocytoma. Physiological Research 2008 57 (Suppl 1) S171-S179.
63. Stridsberg M & Husebye ES. Chromogranin A and chromogranin B are sensitive circulating markers for phaeochromocytoma. European Journal of Endocrinology 1997 136 67-73. (doi:10.1530/eje.0.1360067)
64. Grossrubatscher E, Dalino P, Vignati F, Gambacorta M, Pugliese R, Boniardi M, Rossetti O, Marocchi A, Bertuzzi M & Loli P. The role of chromogranin A in the management of patients with phaeochromocytoma. Clinical Endocrinology 2006 65 287-293. (doi:10.1111/j.1365-2265.2006.02591.x)
65. Eisenhofer G, Lattke P, Herberg M, Siegert G, Qin N, Darr R, Hoyer J, Villringer A, Prejbisz A, Januszewicz A et al. Reference intervals for plasma free metanephrines with an age adjustment for normetanephrine for optimized laboratory testing of phaeochromocytoma. Annals of Clinical Biochemistry 2013 50 62-69. (doi:10.1258/acb.2012.012066)
66. Lenders JW, Pacak K, Huynh TT, Sharabi Y, Mannelli M, Bratslavsky G, Goldstein DS, Bornstein SR & Eisenhofer G. Low sensitivity of glucagon provocative testing for diagnosis of pheochromocytoma. Journal of Clinical Endocrinology and Metabolism 2010 95 238-245. (doi:10.1210/jc.2009-1850)
67. Eisenhofer G, Lenders JW, Goldstein DS, Mannelli M, Csako G, Walther MM, Brouwers FM & Pacak K. Pheochromocytoma catecholamine phenotypes and prediction of tumor size and location by use of plasma free metanephrines. Clinical Chemistry 2005 51 735-744. (doi:10.1373/clinchem.2004.045484)
68. Funahashi H, Imai T, Tanaka Y, Tobinaga J, Wada M, Matsuyama T, Tsukamura K, Yamada F, Takagi H, Narita T et al. Discrepancy between PNMT presence and relative lack of adrenaline production in extra-adrenal pheochromocytoma. Journal of Surgical Oncology 1994 57 196-200. (doi:10.1002/jso.2930570312)
69. Amar L, Peyrard S, Rossignol P, Zinzindohoue F, Gimenez-Roqueplo AP & Plouin PF. Changes in urinary total metanephrine excretion in recurrent and malignant pheochromocytomas and secreting paragangliomas. Annals of the New York Academy of Sciences 2006 1073 383-391. (doi:10.1196/annals.1353.042)
70. Eisenhofer G, Lenders JW, Siegert G, Bornstein SR, Friberg P, Milosevic D, Mannelli M, Linehan WM, Adams K, Timmers HJ 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. European Journal of Cancer 2012 48 1739-1749. (doi:10.1016/j.ejca.2011.07.016)
71. Eisenhofer G, Lenders JW, Timmers H, Mannelli M, Grebe SK, Hofbauer LC, Bornstein SR, Tiebel O, Adams K, Bratslavsky G et al. Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma. Clinical Chemistry 2011 57 411-420. (doi:10.1373/clinchem.2010.153320)