Familial pheochromocytoma

Hormones

Volumn 8, Issue 1, 2009, Pages 29-38

  Erlic, Zoran ^a   Neumann, Hartmut P H ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

MEN2; Molecular genetics; Paraganglioma; Paraganglioma syndrome; Pheochromocytoma; Von Hippel Lindau

Indexed keywords

(3 IODOBENZYL)GUANIDINE I 123; 1,4,7,10 TETRAAZACYCLODODECANE 1,4,7,10 TETRAACETIC ACID; 6 FLUORODOPA F 18; ALPHA 1 ADRENERGIC RECEPTOR BLOCKING AGENT; ALPHA ADRENERGIC RECEPTOR BLOCKING AGENT; ANTINEOPLASTIC AGENT; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CALCIUM CHANNEL BLOCKING AGENT; LUTETIUM 177; NITROPRUSSIDE SODIUM; PENTETREOTIDE; PHENOXYBENZAMINE; PHENTOLAMINE; SORAFENIB; SUCCINATE DEHYDROGENASE; SUNITINIB; URAPIDIL; VASCULOTROPIN INHIBITOR; YTTRIUM 90;

ADRENAL CANCER; BENIGN TUMOR; BIOCHEMISTRY; CLEAR CELL CARCINOMA; CLINICAL FEATURE; CONTINUOUS INFUSION; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; DOSE RESPONSE; DRUG MECHANISM; DRUG MEGADOSE; EARLY DIAGNOSIS; ENDOSCOPIC SURGERY; FAMILIAL DISEASE; FOLLOW UP; GENE MUTATION; GENETIC DISORDER; HEMANGIOBLASTOMA; HUMAN; HYPERTENSION; KIDNEY CARCINOMA; NEUROFIBROMATOSIS; PANCREAS ISLET CELL CARCINOMA; PARAGANGLIOMA; PELVIS FLOOR; PHEOCHROMOCYTOMA; POSITRON EMISSION TOMOGRAPHY; RADIODIAGNOSIS; REVIEW; SKIN DEFECT; THYROID MEDULLARY CARCINOMA; VON HIPPEL LINDAU DISEASE; WORLD HEALTH ORGANIZATION; ADRENAL TUMOR; ARTICLE; GENETICS; MEDULLARY CARCINOMA; SIPPLE SYNDROME; THYROID TUMOR;

ADRENAL GLAND NEOPLASMS; CARCINOMA, MEDULLARY; HUMANS; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; NEUROFIBROMATOSIS 1; PARAGANGLIOMA; PHEOCHROMOCYTOMA; SUCCINATE DEHYDROGENASE; THYROID NEOPLASMS; VON HIPPEL-LINDAU DISEASE;

EID: 63049097576     PISSN: 11093099     EISSN: None     Source Type: Journal    
DOI: 10.14310/horm.2002.1219     Document Type: Review

References (70)

1. Zak F, Lawson W 1982 Anatomy and topography. In The Paraganglionic Chemoreceptor System. Springer-Verlag.
2. Baysal BE, 2002 Hereditary paraganglioma targets diverse paraganglia. J Med Genet 39: 617-622.
3. Neumann H 2008 Pheochromocytoma. In Harrison's Principles of Internal Medicine, The McGraw-Hill Companies, Inc; New York
4. DeLellis RA, Lloyd RV, Heitz PU, Eng C, 2004 World Health Organization (2004) WHO Classification of Tumours, Pathology and genetics of tumours of endocrine organs Lyon, IARC Press.
5. Yeo H, Roman S, 2005 Pheochromocytoma and functional paraganglioma. Curr Opin Oncol 17: 13-18.
6. Proye C, Vix M, Goropoulos A, Kerlo P, Lecomte-Houcke M, 1992 High incidence of malignant pheochromocytoma in a surgical unit. 26 cases out of 100 patients operated from 1971 to 1991. J Endocrinol Invest 15: 651-663.
7. Melicow MM, 1977 One hundred cases of pheochromocytoma (107 tumours) at the Columbia-Presbyterian Medical Center, 1926-1976: a clinicopathological analysis. Cancer 40: 1987-2004.
8. 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: 551-566.
9. 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: 4865-4872. (Pubitemid 350223470)
10. McNicol AM, 2006 Histopathology and immunohistochemistry of adrenal medullary tumours and paragangliomas. Endocr Pathol 17: 329-336.
11. Neumann HP, Bausch B, McWhinney SR, et al, 2002 Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 346: 1459-1466.
12. Neumann HP, Pawlu C, Peczkowska M, et al, 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.[erratum appears in JAMA. 2004 Oct 13;292(14):1686]. JAMA 292: 943-951.
13. Peczkowska M, Cascon A, Prejbisz A, et al, 2008 Extraadrenal and adrenal pheochromocytomas associated with a germline SDHC mutation. Nat Clin Pract Endocrinol Metab 4: 111-115. (Pubitemid 351156901)
14. Amar L, Bertherat J, Baudin E, et al, 2005 Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol 23: 8812-8818. (Pubitemid 46211527)
15. Fränkel F, 1886 Ein Fall von doppelseitigem, völlig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veränderungen am Circulationsapparat und Retinits. Virchows Archiv für Pathologie, Anatomie und Physiologie 103: 244-263.
16. Neumann HP MD, Alexander Vortmeyer, Dieter Schmidt, et al, 2007 Evidence for MEN 2 in the Original Description of Classic Pheochromocytoma. N Engl J Med 357: 1311-1315.
17. Suzuki S, 1910 Über zwei Tumoren aus Nebennierenmarkgewebe. Berliner Klinische Wochenschrift 47: 1623.
18. Neumann HP, Berger DP, Sigmund G, et al, 1993 Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease. N Engl J Med 329: 1531-1538. (Pubitemid 23332438)
19. Baysal BE, Ferrell RE, Willett-Brozick JE, et al, 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287: 848-851.
20. 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: 49-54. (Pubitemid 32614017)
21. 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: 586-587.
22. Pigny P, Vincent A, Cardot Bauters C, et al, 2008 Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. J Clin Endocrinol Metab 93: 1609-1615. (Pubitemid 351656495)
23. Neumann HP, Erlic Z, 2008 Maternal Transmission of Symptomatic Disease with SDHD Mutation: Fact or Fiction? J Clin Endocrinol Metab 93: 1573-1575.
24. Opocher G, Schiavi F, Iacobone M, et al, 2006 Familial nonsyndromic pheochromocytoma. Ann N Y Acad Sci 1073: 149-155.
25. Dahia PL, Hao K, Rogus J, et al, 2005 Novel pheochromocytoma susceptibility loci identified by integrative genomics. Cancer Res 65: 9651-9658. (Pubitemid 41541440)
26. Wallace MR, Marchuk DA, Andersen LB, et al, 1990 Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 249: 181-186. (Pubitemid 20241959)
27. Riccardi VM, 1981 Von Recklinghausen neurofibromatosis. N Engl J Med 305: 1617-1627.
28. Opocher G, Conton P, Schiavi F, Macino B, Mantero F, 2005 Pheochromocytoma in von Hippel-Lindau disease and neurofibromatosis type 1. Fam Cancer 4: 13-16. (Pubitemid 40754840)
29. Bausch B, Borozdin W, Neumann HPH, 2006 European-American Pheochromocytoma Study G. Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma. N Engl J Med 354: 2729-2731.
30. Machens A, Brauckhoff M, Holzhausen HJ, Thanh PN, Lehnert H, Dralle H, 2005 Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2. J Clin Endocrinol Metab 90: 3999-4003. (Pubitemid 41058163)
31. Quayle FJ, Fialkowski EA, Benveniste R, Moley JF, 2007 Pheochromocytoma penetrance varies by RET mutation in MEN 2A. Surgery 142: 800-805. (Pubitemid 350184105)
32. Neumann HP, Wiestler OD, 1991 Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus.[see comment]. Lancet 337: 1052-1054.
33. Latif F, Tory K, Gnarra J, et al, 1993 Identification of the von Hippel-Lindau disease tumor suppressor gene.[see comment]. Science 260: 1317-1320.
34. Maher ER, Webster AR, Richards FM, et al, 1996 Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. J Med Genet 33: 328-332. (Pubitemid 26102462)
35. Eng C, Kiuru M, Fernandez MJ, Aaltonen LA, 2003 A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer 3: 193-202. (Pubitemid 37328871)
36. Baysal BE, Lawrence EC, Ferrell RE, 2007 Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA. BMC Biol 5: 12.
37. Mariman EC, van Beersum SE, Cremers CW, Struycken PM, Ropers HH, 1995 Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity. Hum Genet 95: 56-62.
38. Reisch N, Walz MK, Erlic Z, Neumann HP, 2009 [Pheochromocytoma - still a challenge]. Der Internist 50:27-35
39. Benn DE, Gimenez-Roqueplo AP, Reilly JR, et al, 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab 91: 827-836.
40. Baysal BE, Willett-Brozick JE, Filho PA, Lawrence EC, Myers EN, Ferrell RE, 2004 An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma. J Med Genet 41: 703-709.
41. Schiavi F, Boedeker CC, Bausch B, et al, 2005 Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA 294: 2057-2063. (Pubitemid 41539939)
42. Vanharanta S, Buchta M, McWhinney SR, et al, 2004 Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet 2004;74: 153-159. (Pubitemid 38085246)
43. McWhinney SR, Pasini B, Stratakis CA, 2007 Familial gastrointestinal stromal tumours and germ-line mutations. N Engl J Med 357: 1054-1056. (Pubitemid 47367102)
44. Plouin PF, Degoulet P, Tugaye A, Ducrocq MB, Menard J, 1981 [Screening for phaeochromocytoma: in which hypertensive patients? A semiological study of 2585 patients, including 11 with phaeochromocytoma (author's transl)]. La Nouvelle presse medicale 10: 869-872. (Pubitemid 11157409)
45. Baguet JP, Hammer L, Mazzuco TL, Chabre O, et al, 2004 Circumstances of discovery of phaeochromocytoma: a retrospective study of 41 consecutive patients. Eur J Endocrinol 150: 681-686. (Pubitemid 38786538)
46. Mannelli M, Ianni L, Cilotti A, Conti A, 1999 Pheochromocytoma in Italy: a multicentric retrospective study. Eur J Endocrinol 141: 619-624. (Pubitemid 30064762)
47. Proye C, Fossati P, Fontaine P, et al, 1986 Dopamine-secreting pheochromocytoma: an unrecognized entity? Classification of pheochromocytomas according to their type of secretion. Surgery 100:1154-1162. (Pubitemid 17223236)
48. Manger WM, Eisenhofer G, 2004 Pheochromocytoma: diagnosis and management update. Current Hypertens Rep 6: 477-484.
49. Young WF Jr 2008 Endocrine hypertension. In Williams Textbook of Endocrinology, Philadelphia, PA, Saunders Elsevier.
50. Mariola Pȩczkowska, Zoran Erlic, Michael M. Hoffmann, et al, Impact of Screening Kindreds for SDHD p.Cys11X as a Common Mutation Associated with Paraganglioma Syndrome Type 1. J Clin Endocrinol Metab 93: 4818-4825.
51. Lenders JW, Pacak K, Walther MM, et al, 2002 Biochemical diagnosis of pheochromocytoma: which test is best? JAMA 287: 1427-1434.
52. Eisenhofer G, Lenders JW, Goldstein DS, et al, 2005 Pheochromocytoma catecholamine phenotypes and prediction of tumor size and location by use of plasma free metanephrines. Clin Chem 51: 735-744. (Pubitemid 40463925)
53. Ilias I, Pacak K, 2004 Current approaches and recommended algorithm for the diagnostic localization of pheochromocytoma. J Clin Endocrinol Metab 89: 479-491. (Pubitemid 38269845)
54. van der Harst E, de Herder WW, Bruining HA, et al, 2001 [(123)I]metaiodobenzylguanidine and [(111)In]octreotide uptake in begnign and malignant pheochromocytomas. J Clin Endocrinol Metab 86: 685-693.
55. Furuta N, Kiyota H, Yoshigoe F, Hasegawa N, Ohishi Y, 1999 Diagnosis of pheochromocytoma using [123I]-compared with [131I]-metaiodobenzylguanidine scintigraphy. Int J Urol 6: 119-124. (Pubitemid 30406825)
56. Hoegerle S, Ghanem N, Altehoefer C, et al, 2003 18F-DOPA positron emission tomography for the detection of glomus tumours. Eur J Nucl Med Mol Imaging 230: 689-694. (Pubitemid 36612951)
57. Hoegerle S, Nitzsche E, Altehoefer C, et al, 2002 Pheochromocytomas: detection with 18F DOPA whole body PET - initial results. Radiology 222: 507-512. (Pubitemid 34106126)
58. Pacak K, 2007 Preoperative management of the pheochromocytoma patient. J Clin Endocrinol Metab 92: 4069-4079.
59. Walz MK, Peitgen K, Walz MV, et al, 2001 Posterior retroperitoneoscopic adrenalectomy: lessons learned within five years. World J Surg 25: 728-734. (Pubitemid 32531918)
60. Walz MK, Petersenn S, Koch JA, Mann K, Neumann HP, Schmid KW, 2005 Endoscopic treatment of large primary adrenal tumours. Br J Surg 92: 719-723. (Pubitemid 40863191)
61. Walz MK, Alesina PF, Wenger FA, et al, 2006 Laparoscopic and Retroperitoneoscopic Treatment of Pheochromocytomas and Retroperitoneal Paragangliomas: Results of 161 Tumours in 126 Patients. World J Surg 30:1-10.
62. Barczynski M, Konturek A, Golkowski F, et al, 2007 Posterior retroperitoneoscopic adrenalectomy: a comparison between the initial experience in the invention phase and introductory phase of the new surgical technique. World J Surg 31: 65-71. (Pubitemid 46089545)
63. Yip L, Lee JE, Shapiro SE, et al, 2004 Surgical management of hereditary pheochromocytoma. J Am Coll Surg 198: 525-534
64. Walz MK, Peitgen K, Diesing D, et al, 2004 Partial versus total adrenalectomy by the posterior retroperitoneoscopic approach: early and long-term results of 325 consecutive procedures in primary adrenal neoplasias. World J Surg 28: 1323-1329. (Pubitemid 40941300)
65. Walz MK, Peitgen K, Neumann HP, Janssen OE, Philipp T, Mann K, 2002 Endoscopic treatment of solitary, bilateral, multiple, and recurrent pheochromocytomas and paragangliomas. World J Surg 26: 1005-1012. (Pubitemid 36920300)
66. Safford SD, Coleman RE, Gockerman JP, et al, 2003 Iodine -131 metaiodobenzylguanidine is an effective treatment for malignant pheochromocytoma and paraganglioma. Surgery 134: 956-962.
67. 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 NY Acad Sci 1073: 465-490.
68. 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: 334-340.
69. Wehrmann C, Senftleben S, Zachert C, Muller D, Baum RP, 2007 Results of individual patient dosimetry in peptide receptor radionuclide therapy with 177Lu DOTA-TATE and 177Lu DOTA-NOC. Cancer Biother Radiopharm 22: 406-416. (Pubitemid 47067899)
70. Manger WM, Gifford RW, 2002 Pheochromocytoma. J Clin Hypertens 4: 62-72.