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Pheochromocytoma and Paraganglioma

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Endocrine Neoplasia

Part of the book series: Cancer Treatment and Research ((CTAR,volume 153))

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Abstract

Pheochromocytomas and extra-adrenal sympathetic paragangliomas are catecholamine-secreting neuroendocrine tumors derived from the chromaffin cells of the embryonic neural crest. Parasympathetic paragangliomas are related tumors which most often arise within the head and neck, and are anatomically associated with the parasympathetic nervous system. Patients with pheochromocytomas and extra-adrenal sympathetic paragangliomas generally present with symptoms resulting from excessive production and secretion of catecholamines whereas parasympathetic paragangliomas usually present as a solitary and progressively enlarging mass without catecholamine secretion.

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References

  1. Ronald A Delellis (2004) WHO histological classification of tumours of the adrenal gland. IARC Press, Lyon

    Google Scholar 

  2. Beard CM, Sheps SG, Kurland LT, Carney JA, Lie JT (1983) Occurrence of pheochromocytoma in Rochester, Minnesota, 1950 through 1979. Mayo Clin Proc 58(12):802–804

    CAS  PubMed  Google Scholar 

  3. Fernandez-Calvet L, Garcia-Mayor RV (1994) Incidence of pheochromocytoma in South Galicia, Spain. J Intern Med 236(6):675–677

    Article  CAS  PubMed  Google Scholar 

  4. Stenstrom G, Svardsudd K (1986) Pheochromocytoma in Sweden 1958–1981. An analysis of the National Cancer Registry Data. Acta Med Scand 220(3):225–232

    Article  CAS  PubMed  Google Scholar 

  5. McNeil AR, Blok BH, Koelmeyer TD, Burke MP, Hilton JM (2000) Phaeochromocytomas discovered during coronial autopsies in Sydney, Melbourne and Auckland. Aust N Z J Med 30(6):648–652

    CAS  PubMed  Google Scholar 

  6. Lo CY, Lam KY, Wat MS, Lam KS (2000) Adrenal pheochromocytoma remains a frequently overlooked diagnosis. Am J Surg 179(3):212–215

    Article  CAS  PubMed  Google Scholar 

  7. Ariton M, Juan CS, AvRuskin TW (2000) Pheochromocytoma: clinical observations from a Brooklyn tertiary hospital. Endocr Pract 6(3):249–252

    CAS  PubMed  Google Scholar 

  8. Omura M, Saito J, Yamaguchi K, Kakuta Y, Nishikawa T (2004) Prospective study on the prevalence of secondary hypertension among hypertensive patients visiting a general outpatient clinic in Japan. Hypertens Res 27(3):193–202

    Article  PubMed  Google Scholar 

  9. Goldstein RE, O’Neill JA Jr, Holcomb GW, 3rd et al (1999) Clinical experience over 48 years with pheochromocytoma. Ann Surg 229(6):755–764; discussion 764–756

    Google Scholar 

  10. Kaufman BH, Telander RL, van Heerden JA, Zimmerman D, Sheps SG, Dawson B (1983) Pheochromocytoma in the pediatric age group: current status. J Pediatr Surg 18(6):879–884

    Article  CAS  PubMed  Google Scholar 

  11. Glibert SF (2000) Developmental Biology. In: Glibert SF (ed) Developmental Biology, 6th edn. Sinauer Associates Inc, Sunderland, Massachusetts

    Google Scholar 

  12. Lack E (1997) Tumors of the adrenal gland and extra-adrenal paraganglia. Atlas of tumor pathology, vol 3. Armed Forces Institute of Pathology, Washington, DC

    Google Scholar 

  13. Komminoth P, de Krijger R, Tischler A (2002) Paraganlia and the adrenal medulla. In: LiVolsi V, Asa S (eds) Endocrine pathology. Churchill Livingstone, Philadelphia, pp 149–169

    Google Scholar 

  14. McNicol AM, Young WF, Kawashima A, Komminoth P, Tischler AS (2004) Benign phaeochromocytoma. In: DeLellis RA, Lloyd RV, Heitz PU, Eng C (eds) WHO classification of tumours – pathology and genetics of tumours of endocrine organs. IARC Press, Lyon, pp 151–155

    Google Scholar 

  15. Demeure MJ (1993) Physiology of the APUD system. Semin Surg Oncol 9(5):362–367

    Article  CAS  PubMed  Google Scholar 

  16. Eisenhofer G, Walther MM, Huynh TT et al (2001) Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. J Clin Endocrinol Metab 86(5):1999–2008

    Article  CAS  PubMed  Google Scholar 

  17. Eisenhofer G, Keiser H, Friberg P et al (1998) Plasma metanephrines are markers of pheochromocytoma produced by catechol-O-methyltransferase within tumors. J Clin Endocrinol Metab 83(6):2175–2185

    Article  CAS  PubMed  Google Scholar 

  18. Grossman A, Pacak K, Sawka A et al (2006) Biochemical diagnosis and localization of pheochromocytoma: can we reach a consensus? Ann N Y Acad Sci 1073:332–347

    Article  CAS  PubMed  Google Scholar 

  19. Bravo EL, Tagle R (2003) Pheochromocytoma: state-of-the-art and future prospects. Endocr Rev 24(4):539–553

    Article  CAS  PubMed  Google Scholar 

  20. Adler JT, Meyer-Rochow GY, Chen H et al (2008) Pheochromocytoma: current approaches and future directions. Oncologist 13(7):779–793

    Article  PubMed  Google Scholar 

  21. Bravo EL (2002) Pheochromocytoma: an approach to antihypertensive management. Ann N Y Acad Sci 970:1–10

    Article  CAS  PubMed  Google Scholar 

  22. Lee JA, Zarnegar R, Shen WT, Kebebew E, Clark OH, Duh QY (2007) Adrenal incidentaloma, borderline elevations of urine or plasma metanephrine levels, and the “subclinical” pheochromocytoma. Arch Surg 142(9):870–873; discussion 873–874

    Google Scholar 

  23. Kasperlik-Zeluska AA, Roslonowska E, Slowinska-Srzednicka J et al (1997) Incidentally discovered adrenal mass (incidentaloma): investigation and management of 208 patients. Clin Endocrinol (Oxf) 46(1):29–37

    Article  CAS  Google Scholar 

  24. Stein PP, Black HR (1991) A simplified diagnostic approach to pheochromocytoma. A review of the literature and report of one institution’s experience. Medicine (Baltimore) 70(1):46–66

    CAS  Google Scholar 

  25. Bravo EL (2004) Pheochromocytoma: current perspectives in the pathogenesis, diagnosis, and management. Arq Bras Endocrinol Metabol 48(5):746–750

    PubMed  Google Scholar 

  26. Eisenhofer G, Rivers G, Rosas AL, Quezado Z, Manger WM, Pacak K (2007) Adverse drug reactions in patients with phaeochromocytoma: incidence, prevention and management. Drug Saf 30(11):1031–1062

    Article  CAS  PubMed  Google Scholar 

  27. Taylor MJ, McIndoe A (2007) Unresponsive asystolic cardiac arrest responding to external cardiac pacing in a patient with phaeochromocytoma. Anaesthesia 62(8):838–841

    Article  CAS  PubMed  Google Scholar 

  28. Londe S (1978) Causes of hypertension in the young. Pediatr Clin North Am 25(1):55–65

    CAS  PubMed  Google Scholar 

  29. De Krijger RR, Petri BJ, Van Nederveen FH et al (2006) Frequent genetic changes in childhood pheochromocytomas. Ann N Y Acad Sci 1073:166–176

    Article  PubMed  CAS  Google Scholar 

  30. Beltsevich DG, Kuznetsov NS, Kazaryan AM, Lysenko MA (2004) Pheochromocytoma surgery: epidemiologic peculiarities in children. World J Surg 28(6):592–596

    Article  PubMed  Google Scholar 

  31. Havekes B, Romijn JA, Eisenhofer G, Adams K, Pacak K (2009) Update on pediatric pheochromocytoma. Pediatr Nephrol 24(5):943–950

    Article  PubMed  Google Scholar 

  32. Whalen RK, Althausen AF, Daniels GH (1992) Extra-adrenal pheochromocytoma. J Urol 147(1):1–10

    CAS  PubMed  Google Scholar 

  33. Neumann HP, Bausch B, McWhinney SR et al (2002) Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 346(19):1459–1466

    Article  CAS  PubMed  Google Scholar 

  34. Pomares FJ, Canas R, Rodriguez JM, Hernandez AM, Parrilla P, Tebar FJ (1998) Differences between sporadic and multiple endocrine neoplasia type 2A phaeochromocytoma. Clin Endocrinol (Oxf) 48(2):195–200

    Article  CAS  Google Scholar 

  35. Walther MM, Reiter R, Keiser HR et al (1999) Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma. J Urol 162(3 Pt 1):659–664

    Article  CAS  PubMed  Google Scholar 

  36. Bornstein SR, Gimenez-Roqueplo AP (2006) Genetic testing in pheochromocytoma: increasing importance for clinical decision making. Ann N Y Acad Sci 1073:94–103

    Article  PubMed  Google Scholar 

  37. Loh KC, Fitzgerald PA, Matthay KK, Yeo PP, Price DC (1997) The treatment of malignant pheochromocytoma with iodine-131 metaiodobenzylguanidine (131I-MIBG): a comprehensive review of 116 reported patients. J Endocrinol Invest 20(11):648–658

    CAS  PubMed  Google Scholar 

  38. Plouin PF, Chatellier G, Fofol I, Corvol P (1997) Tumor recurrence and hypertension persistence after successful pheochromocytoma operation. Hypertension 29(5):1133–1139

    CAS  PubMed  Google Scholar 

  39. Tischler AS (2008) Pheochromocytoma and extra-adrenal paraganglioma: updates. Arch Pathol Lab Med 132(8):1272–1284

    PubMed  Google Scholar 

  40. Chrisoulidou A, Kaltsas G, Ilias I, Grossman AB (2007) The diagnosis and management of malignant phaeochromocytoma and paraganglioma. Endocr Relat Cancer 14(3):569–585

    Article  CAS  PubMed  Google Scholar 

  41. Shen WT, Sturgeon C, Clark OH, Duh QY, Kebebew E (2004) Should pheochromocytoma size influence surgical approach? A comparison of 90 malignant and 60 benign pheochromocytomas. Surgery 136(6):1129–1137

    Article  PubMed  Google Scholar 

  42. van der Harst E, de Herder WW, de Krijger RR et al (2002) The value of plasma markers for the clinical behaviour of phaeochromocytomas. Eur J Endocrinol 147(1):85–94

    Article  PubMed  Google Scholar 

  43. Helman LJ, Cohen PS, Averbuch SD, Cooper MJ, Keiser HR, Israel MA (1989) Neuropeptide Y expression distinguishes malignant from benign pheochromocytoma. J Clin Oncol 7(11):1720–1725

    CAS  PubMed  Google Scholar 

  44. Linnoila RI, Keiser HR, Steinberg SM, Lack EE (1990) Histopathology of benign versus malignant sympathoadrenal paragangliomas: clinicopathologic study of 120 cases including unusual histologic features. Hum Pathol 21(11):1168–1180

    Article  CAS  PubMed  Google Scholar 

  45. Gimenez-Roqueplo AP, Favier J, Rustin P et al (2003) Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res 63(17):5615–5621

    CAS  PubMed  Google Scholar 

  46. Brouwers FM, Eisenhofer G, Tao JJ 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(11):4505–4509

    Article  CAS  PubMed  Google Scholar 

  47. Eisenhofer G, Bornstein SR, Brouwers FM et al (2004) Malignant pheochromocytoma: current status and initiatives for future progress. Endocr Relat Cancer 11(3):423–436

    Article  CAS  PubMed  Google Scholar 

  48. Amar L, Bertherat J, Baudin E et al (2005) Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol 23(34):8812–8818

    Article  CAS  PubMed  Google Scholar 

  49. Thompson LD (2002) Pheochromocytoma of the Adrenal gland Scaled Score (PASS) to separate benign from malignant neoplasms: a clinicopathologic and immunophenotypic study of 100 cases. Am J Surg Pathol 26(5):551–566

    Article  PubMed  Google Scholar 

  50. Strong VE, Kennedy T, Al-Ahmadie H et al (2008) Prognostic indicators of malignancy in adrenal pheochromocytomas: clinical, histopathologic, and cell cycle/apoptosis gene expression analysis. Surgery 143(6):759–768

    Article  PubMed  Google Scholar 

  51. Brouwers FM, Petricoin EF 3rd, Ksinantova L et al (2005) Low molecular weight proteomic information distinguishes metastatic from benign pheochromocytoma. Endocr Relat Cancer 12(2):263–272

    Article  CAS  PubMed  Google Scholar 

  52. John H, Ziegler WH, Hauri D, Jaeger P (1999) Pheochromocytomas: can malignant potential be predicted? Urology 53(4):679–683

    Article  CAS  PubMed  Google Scholar 

  53. Sisson JC, Shulkin BL, Esfandiari NH (2006) Courses of malignant pheochromocytoma: implications for therapy. Ann N Y Acad Sci 1073:505–511

    Article  CAS  PubMed  Google Scholar 

  54. Eisenhofer G, Siegert G, Kotzerke J, Bornstein SR, Pacak K (2008) Current progress and future challenges in the biochemical diagnosis and treatment of pheochromocytomas and paragangliomas. Horm Metab Res 40(5):329–337

    Article  CAS  PubMed  Google Scholar 

  55. Lenders JW, Eisenhofer G, Mannelli M, Pacak K (2005) Phaeochromocytoma. Lancet 366(9486):665–675

    Article  PubMed  Google Scholar 

  56. Abe M, Orita Y, Nakashima Y, Nakamura M (1984) Hypertensive crisis induced by metoclopramide in patient with pheochromocytoma. Angiology 35(2):122–128

    Article  CAS  PubMed  Google Scholar 

  57. Lawrence AM (1967) Glucagon provocative test for pheochromocytoma. Ann Intern Med 66(6):1091–1096

    CAS  PubMed  Google Scholar 

  58. Eisenhofer G, Goldstein DS, Walther MM et al (2003) Biochemical diagnosis of pheochromocytoma: how to distinguish true- from false-positive test results. J Clin Endocrinol Metab 88(6):2656–2666

    Article  CAS  PubMed  Google Scholar 

  59. Sjoberg RJ, Simcic KJ, Kidd GS (1992) The clonidine suppression test for pheochromocytoma. A review of its utility and pitfalls. Arch Intern Med 152(6):1193–1197

    Article  CAS  PubMed  Google Scholar 

  60. Ilias I, Pacak K (2004) Current approaches and recommended algorithm for the diagnostic localization of pheochromocytoma. J Clin Endocrinol Metab 89(2):479–491

    Article  CAS  PubMed  Google Scholar 

  61. Maurea S, Cuocolo A, Reynolds JC, Neumann RD, Salvatore M (1996) Diagnostic imaging in patients with paragangliomas. Computed tomography, magnetic resonance and MIBG scintigraphy comparison. Q J Nucl Med 40(4):365–371

    CAS  PubMed  Google Scholar 

  62. Sahdev A, Sohaib A, Monson JP, Grossman AB, Chew SL, Reznek RH (2005) CT and MR imaging of unusual locations of extra-adrenal paragangliomas (pheochromocytomas). Eur Radiol 15(1):85–92

    Article  PubMed  Google Scholar 

  63. Van Der Horst-Schrivers AN, Jager PL, Boezen HM, Schouten JP, Kema IP, Links TP (2006) Iodine-123 metaiodobenzylguanidine scintigraphy in localising phaeochromocytomas – experience and meta-analysis. Anticancer Res 26(2B):1599–1604

    Google Scholar 

  64. Ilias I, Yu J, Carrasquillo JA et al (2003) Superiority of 6-[18F]-fluorodopamine positron emission tomography versus [131I]-metaiodobenzylguanidine scintigraphy in the localization of metastatic pheochromocytoma. J Clin Endocrinol Metab 88(9):4083–4087

    Article  CAS  PubMed  Google Scholar 

  65. Shapiro B, Sisson JC, Shulkin BL, Gross MD, Zempel S (1995) The current status of meta-iodobenzylguanidine and related agents for the diagnosis of neuro-endocrine tumors. Q J Nucl Med 39(4 Suppl 1):3–8

    CAS  PubMed  Google Scholar 

  66. Esfandiari NH, Shulkin BL, Bui C, Jaffe CA (2006) Multimodality imaging of malignant pheochromocytoma. Clin Nucl Med 31(12):822–825

    Article  PubMed  Google Scholar 

  67. Khorram-Manesh A, Ahlman H, Nilsson O et al (2005) Long-term outcome of a large series of patients surgically treated for pheochromocytoma. J Intern Med 258(1):55–66

    Article  CAS  PubMed  Google Scholar 

  68. Modlin IM, Farndon JR, Shepherd A et al (1979) Phaeochromocytomas in 72 patients: clinical and diagnostic features, treatment and long term results. Br J Surg 66(7):456–465

    Article  CAS  PubMed  Google Scholar 

  69. Schuttler J, Westhofen P, Kania U, Ihmsen H, Kammerecker S, Hirner A (1995) Quantitative assessment of catecholamine secretion as a rational principle of anesthesia management in pheochromocytoma surgery. Anasthesiol Intensivmed Notfallmed Schmerzther 30(6):341–349

    Article  CAS  PubMed  Google Scholar 

  70. Lebuffe G, Dosseh ED, Tek G et al (2005) The effect of calcium channel blockers on outcome following the surgical treatment of phaeochromocytomas and paragangliomas. Anaesthesia 60(5):439–444

    Article  CAS  PubMed  Google Scholar 

  71. Prys-Roberts C (2000) Phaeochromocytoma – recent progress in its management. Br J Anaesth 85(1):44–57

    Article  CAS  PubMed  Google Scholar 

  72. Steinsapir J, Carr AA, Prisant LM, Bransome ED Jr (1997) Metyrosine and pheochromocytoma. Arch Intern Med 157(8):901–906

    Article  CAS  PubMed  Google Scholar 

  73. Elliott HL, Meredith PA, Vincent J, Reid JL (1986) Clinical pharmacological studies with doxazosin. Br J Clin Pharmacol 21(Suppl 1):27S–31S

    CAS  PubMed  Google Scholar 

  74. Bravo EL (1997) Pheochromocytoma. Curr Ther Endocrinol Metab 6:195–197

    CAS  PubMed  Google Scholar 

  75. Mannelli M (2006) Management and treatment of pheochromocytomas and paragangliomas. Ann N Y Acad Sci 1073:405–416

    Article  PubMed  Google Scholar 

  76. Pacak K (2007) Preoperative management of the pheochromocytoma patient. J Clin Endocrinol Metab 92(11):4069–4079

    Article  CAS  PubMed  Google Scholar 

  77. Kinney MA, Narr BJ, Warner MA (2002) Perioperative management of pheochromocytoma. J Cardiothorac Vasc Anesth 16(3):359–369

    Article  PubMed  Google Scholar 

  78. Kanto JH (1985) Current status of labetalol, the first alpha- and beta-blocking agent. Int J Clin Pharmacol Ther Toxicol 23(11):617–628

    CAS  PubMed  Google Scholar 

  79. Thompson GB, Grant CS, van Heerden JA et al (1997) Laparoscopic versus open posterior adrenalectomy: a case-control study of 100 patients. Surgery 122(6):1132–1136

    Article  CAS  PubMed  Google Scholar 

  80. Ippolito G, Palazzo FF, Sebag F, Thakur A, Cherenko M, Henry JF (2008) Safety of laparoscopic adrenalectomy in patients with large pheochromocytomas: a single institution review. World J Surg 32(5):840–844

    Article  PubMed  Google Scholar 

  81. Soon PS, Yeh MW, Delbridge LW et al (2008) Laparoscopic surgery is safe for large adrenal lesions. Eur J Surg Oncol 34(1):67–70

    CAS  PubMed  Google Scholar 

  82. Jansson S, Khorram-Manesh A, Nilsson O et al (2006) Treatment of bilateral pheochromocytoma and adrenal medullary hyperplasia. Ann N Y Acad Sci 1073:429–435

    Article  PubMed  Google Scholar 

  83. Yip L, Lee JE, Shapiro SE et al (2004) Surgical management of hereditary pheochromocytoma. J Am Coll Surg 198(4):525–534; discussion 534–525

    Google Scholar 

  84. Amar L, Servais A, Gimenez-Roqueplo AP, Zinzindohoue F, Chatellier G, Plouin PF (2005) Year of diagnosis, features at presentation, and risk of recurrence in patients with pheochromocytoma or secreting paraganglioma. J Clin Endocrinol Metab 90(4):2110–2116

    Article  CAS  PubMed  Google Scholar 

  85. Huang H, Abraham J, Hung E et al (2008) Treatment of malignant pheochromocytoma/paraganglioma with cyclophosphamide, vincristine, and dacarbazine: recommendation from a 22-year follow-up of 18 patients. Cancer 113(8):2020–2028

    Article  CAS  PubMed  Google Scholar 

  86. Gedik GK, Hoefnagel CA, Bais E, Valdes Olmos RA (2008) (131)I-MIBG therapy in metastatic phaeochromocytoma and paraganglioma. Eur J Nucl Med Mol Imaging 35(4):725–733

    Article  CAS  PubMed  Google Scholar 

  87. Scholz T, Eisenhofer G, Pacak K, Dralle H, Lehnert H (2007) Clinical review: current treatment of malignant pheochromocytoma. J Clin Endocrinol Metab 92(4):1217–1225

    Article  CAS  PubMed  Google Scholar 

  88. Fitzgerald PA, Goldsby RE, Huberty JP et al (2006) Malignant pheochromocytomas and paragangliomas: a phase II study of therapy with high-dose 131I-metaiodobenzylguanidine (131I-MIBG). Ann N Y Acad Sci 1073:465–490

    Article  CAS  PubMed  Google Scholar 

  89. Yu L, Fleckman AM, Chadha M, Sacks E, Levetan C, Vikram B (1996) Radiation therapy of metastatic pheochromocytoma: case report and review of the literature. Am J Clin Oncol 19(4):389–393

    Article  CAS  PubMed  Google Scholar 

  90. Forrer F, Riedweg I, Maecke HR, Mueller-Brand J (2008) Radiolabeled DOTATOC in patients with advanced paraganglioma and pheochromocytoma. Q J Nucl Med Mol Imaging 52(4):334–340

    CAS  PubMed  Google Scholar 

  91. Astuti D, Latif F, Dallol A et al (2001) Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 69(1):49–54

    Article  CAS  PubMed  Google Scholar 

  92. Niemann S, Muller U (2000) Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26(3):268–270

    Article  CAS  PubMed  Google Scholar 

  93. Baysal BE, Ferrell RE, Willett-Brozick JE et al (2000) Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287(5454):848–851

    Article  CAS  PubMed  Google Scholar 

  94. Mannelli M, Simi L, Gagliano MS et al (2007) Genetics and biology of pheochromocytoma. Exp Clin Endocrinol Diabetes 115(3):160–165

    Article  CAS  PubMed  Google Scholar 

  95. Yeh IT, Lenci RE, Qin Y et al (2008) A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors. Hum Genet 124(3):279–285

    Article  CAS  PubMed  Google Scholar 

  96. Carney JA, Stratakis CA (2002) Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. Am J Med Genet 108(2):132–139

    Article  PubMed  Google Scholar 

  97. Pasini B, McWhinney SR, Bei T et al (2008) Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet 16(1):79–88

    Article  CAS  PubMed  Google Scholar 

  98. Maher ER, Yates JR, Harries R et al (1990) Clinical features and natural history of von Hippel-Lindau disease. Q J Med 77(283):1151–1163

    CAS  PubMed  Google Scholar 

  99. Friedrich CA (1999) Von Hippel-Lindau syndrome. A pleomorphic condition. Cancer 86(11 Suppl):2478–2482

    Article  CAS  PubMed  Google Scholar 

  100. Lonser RR, Glenn GM, Walther M et al (2003) von Hippel-Lindau disease. Lancet 361(9374):2059–2067

    Article  CAS  PubMed  Google Scholar 

  101. Maher ER, Kaelin WG Jr (1997) von Hippel-Lindau disease. Medicine (Baltimore) 76(6):381–391

    Article  CAS  Google Scholar 

  102. Gagel RF, Tashjian AH Jr, Cummings T et al (1988) The clinical outcome of prospective screening for multiple endocrine neoplasia type 2a. An 18-year experience. N Engl J Med 318(8):478–484

    Article  CAS  PubMed  Google Scholar 

  103. Modigliani E, Vasen HM, Raue K et al (1995) Pheochromocytoma in multiple endocrine neoplasia type 2: European study. The Euromen Study Group. J Intern Med 238(4):363–367

    Article  CAS  PubMed  Google Scholar 

  104. Chevinsky AH, Minton JP, Falko JM (1990) Metastatic pheochromocytoma associated with multiple endocrine neoplasia syndrome type II. Arch Surg 125(7):935–938

    CAS  PubMed  Google Scholar 

  105. Karagiannis A, Mikhailidis DP, Athyros VG, Harsoulis F (2007) Pheochromocytoma: an update on genetics and management. Endocr Relat Cancer 14(4):935–956

    Article  CAS  PubMed  Google Scholar 

  106. Gutmann DH, Aylsworth A, Carey JC et al (1997) The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 278(1):51–57

    Article  CAS  PubMed  Google Scholar 

  107. Neumann HP, Pawlu C, Peczkowska M et al (2004) Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 292(8):943–951

    Article  CAS  PubMed  Google Scholar 

  108. Gimenez-Roqueplo AP, Lehnert H, Mannelli M et al (2006) Phaeochromocytoma, new genes and screening strategies. Clin Endocrinol (Oxf) 65(6):699–705

    Article  CAS  Google Scholar 

  109. Mannelli M, Ercolino T, Giache V, Simi L, Cirami C, Parenti G (2007) Genetic screening for pheochromocytoma: should SDHC gene analysis be included? J Med Genet 44(9):586–587

    Article  CAS  PubMed  Google Scholar 

  110. Benn DE, Richardson AL, Marsh DJ, Robinson BG (2006) Genetic testing in pheochromocytoma- and paraganglioma-associated syndromes. Ann N Y Acad Sci 1073:104–111

    Article  PubMed  Google Scholar 

  111. Matyakhina L, Bei TA, McWhinney SR et al (2007) Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors. J Clin Endocrinol Metab 92(8):2938–2943

    Article  CAS  PubMed  Google Scholar 

  112. Carney JA (1999) Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. Mayo Clin Proc 74(6):543–552

    Article  CAS  PubMed  Google Scholar 

  113. Gelato MC, Vassalotti J (1990) Insulin-like growth factor-II: possible local growth factor in pheochromocytoma. J Clin Endocrinol Metab 71(5):1168–1174

    Article  CAS  PubMed  Google Scholar 

  114. Lam KY, Lo CY, Wat NM, Luk JM, Lam KS (2001) The clinicopathological features and importance of p53, Rb, and mdm2 expression in phaeochromocytomas and paragangliomas. J Clin Pathol 54(6):443–448

    Article  CAS  PubMed  Google Scholar 

  115. Clarke MR, Weyant RJ, Watson CG, Carty SE (1998) Prognostic markers in pheochromocytoma. Hum Pathol 29(5):522–526

    Article  CAS  PubMed  Google Scholar 

  116. Geli J, Nord B, Frisk T et al (2005) Deletions and altered expression of the RIZ1 tumour suppressor gene in 1p36 in pheochromocytomas and abdominal paragangliomas. Int J Oncol 26(5):1385–1391

    CAS  PubMed  Google Scholar 

  117. Benn DE, Dwight T, Richardson AL et al (2000) Sporadic and familial pheochromocytomas are associated with loss of at least two discrete intervals on chromosome 1p. Cancer Res 60(24):7048–7051

    CAS  PubMed  Google Scholar 

  118. Schlisio S, Kenchappa RS, Vredeveld LC et al (2008) The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. Genes Dev 22(7):884–893

    Article  CAS  PubMed  Google Scholar 

  119. Dahia PL (2006) Transcription association of VHL and SDH mutations link hypoxia and oxidoreductase signals in pheochromocytomas. Ann N Y Acad Sci 1073:208–220

    Article  CAS  PubMed  Google Scholar 

  120. Thouennon E, Elkahloun AG, Guillemot J et al (2007) Identification of potential gene markers and insights into the pathophysiology of pheochromocytoma malignancy. J Clin Endocrinol Metab 92(12):4865–4872

    Article  CAS  PubMed  Google Scholar 

  121. Brouwers FM, Elkahloun AG, Munson PJ et al (2006) Gene expression profiling of benign and malignant pheochromocytoma. Ann N Y Acad Sci 1073:541–556

    Article  CAS  PubMed  Google Scholar 

  122. Favier J, Briere JJ, Strompf L et al (2005) Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency. Horm Res 63(4):171–179

    Article  CAS  PubMed  Google Scholar 

  123. Rustin P, Munnich A, Rotig A (2002) Succinate dehydrogenase and human diseases: new insights into a well-known enzyme. Eur J Hum Genet 10(5):289–291

    Article  CAS  PubMed  Google Scholar 

  124. Semenza GL (2007) Hypoxia-inducible factor 1 (HIF-1) pathway. Sci STKE 2007(407):cm8

    Google Scholar 

  125. Lee S, Nakamura E, Yang H et al (2005) Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer. Cancer Cell 8(2):155–167

    Article  PubMed  CAS  Google Scholar 

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Correspondence to Stan B. Sidhu .

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Meyer-Rochow, G.Y., Sidhu, S.B. (2010). Pheochromocytoma and Paraganglioma. In: Sturgeon, C. (eds) Endocrine Neoplasia. Cancer Treatment and Research, vol 153. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-0857-5_9

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