Diagnostic Histopathology
Volume 15, Issue 2 , Pages 61-68 , February 2009

Familial endocrine tumours: phaeochromocytomas and extra-adrenal paragangliomas

References 

  1. Tischler AS. Pheochromocytoma and extra-adrenal paraganglioma: updates. Arch Pathol Lab Med. 2008;132:1272–1284
  2. Komminoth P, De Krjiger R, Tischler A. Paraganglia and the adrenal medulla. In:  LiVolsi V,  Asa S editor. Endocrine pathology. New York: Churchill Livingstone; 2002;p. 149–169
  3. Thompson LD. 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. 2002;26:551–566
  4. Kimura N, Watanabe T, Noshiro T, Shizawa S, Miura Y. Histological grading of adrenal and extra-adrenal pheochromocytomas and relationship to prognosis: a clinicopathological analysis of 116 adrenal pheochromocytomas and 30 extra-adrenal sympathetic paragangliomas including 38 malignant tumors. Endocr Pathol. 2005;16:23–32
  5. Komminoth P. Multiple endocrine neoplasia type 1 and 2: from morphology to molecular pathology 1997. Verh Dtsch Ges Pathol. 1997;81:125–138
  6. Komminoth P. Review: multiple endocrine neoplasia type 1, sporadic neuroendocrine tumors, and MENIN. Diagn Mol Pathol. 1999;8:107–112
  7. Dackiw AP, Cote GJ, Fleming JB, et al. Screening for MEN1 mutations in patients with atypical endocrine neoplasia. Surgery. 1999;126:1097–1103discussion 1093–4
  8. DeLellis R, Heitz P, Lloyd R, Eng C. WHO classification of tumours: pathology and genetics of tumours of endocrine organs. Lyon: IARC Press; 2004;
  9. Komminoth P, Heitz PU, Klöppel G. Multiple endocrine disorders. In:  Stefaneanu LS,  Sasano HS,  Kovacs K editor. Molecular and cellular endocrine pathology. London: Arnold; 2000;p. 375–400
  10. Brandi ML, Gagel RF, Angeli A, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. 2001;86:5658–5671
  11. Szinnai G, Meier C, Komminoth P, Zumsteg UW. Review of multiple endocrine neoplasia type 2A in children: therapeutic results of early thyroidectomy and prognostic value of codon analysis. Pediatrics. 2003;111:E132–E139
  12. Komminoth P. The RET proto-oncogene in medullary and papillary thyroid carcinoma. Molecular features, pathophysiology and clinical implications. Virchows Arch. 1997;431:1–9
  13. Gujral TS, Singh VK, Jia Z, Mulligan LM. Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2B. Cancer Res. 2006;66:10741–10749
  14. Gujral TS, van Veelen W, Richardson DS, et al. A novel RET kinase-beta-catenin signaling pathway contributes to tumorigenesis in thyroid carcinoma. Cancer Res. 2008;68:1338–1346
  15. Amar L, Bertherat J, Baudin E, et al. Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol. 2005;23:8812–8818
  16. Korpershoek E, Petri BJ, van Nederveen FH, et al. Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma. Endocr Relat Cancer. 2007;14:453–462
  17. Brauch H, Kishida T, Glavac D, et al. Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. Hum Genet. 1995;95:551–556
  18. Perren A, Komminoth P. Familial pheochromocytomas and paragangliomas: stories from the sign-out room. Endocr Pathol. 2006;17:337–344
  19. Hes FJ, van der Luijt RB, Janssen AL, et al. Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification. Clin Genet. 2007;72:122–129
  20. Gimm O. Pheochromocytoma-associated syndromes: genes, proteins and functions of RET, VHL and SDHx. Fam Cancer. 2005;4:17–23
  21. Pack SD, Zbar B, Pak E, et al. Constitutional von Hippel-Lindau (VHL) gene deletions detected in VHL families by fluorescence in situ hybridization. Cancer Res. 1999;59:5560–5564
  22. Lenders JW, Eisenhofer G, Mannelli M, Pacak K. Phaeochromocytoma. Lancet. 2005;366:665–675
  23. Dannenberg H, De Krijger RR, van der Harst E, et al. Von Hippel-Lindau gene alterations in sporadic benign and malignant pheochromocytomas. Int J Cancer. 2003;105:190–195
  24. Koch CA, Mauro D, Walther MM, et al. Pheochromocytoma in von Hippel-Lindau disease: distinct histopathologic phenotype compared to pheochromocytoma in multiple endocrine neoplasia type 2. Endocr Pathol. 2002;13:17–27
  25. Eisenhofer G, Huynh TT, Pacak K, et al. Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome. Endocr Relat Cancer. 2004;11:897–911
  26. Hoffman MA, Ohh M, Yang H, Klco JM, Ivan M, Kaelin WG. von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. Hum Mol Genet. 2001;10:1019–1027
  27. 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;88:2656–2666
  28. Sharif S, Moran A, Huson SM, et al. Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet. 2007;44:481–484
  29. Kramer K, Hasel C, Aschoff AJ, Henne-Bruns D, Wuerl P. Multiple gastrointestinal stromal tumors and bilateral pheochromocytoma in neurofibromatosis. World J Gastroenterol. 2007;13:3384–3387
  30. Perren A, Wiesli P, Schmid S, et al. Pancreatic endocrine tumors are a rare manifestation of the neurofibromatosis type 1 phenotype: molecular analysis of a malignant insulinoma in a NF-1 patient. Am J Surg Pathol. 2006;30:1047–1051
  31. Walther MM, Herring J, Enquist E, Keiser HR, Linehan WM. von Recklinghausen’s disease and pheochromocytomas. J Urol. 1999;162:1582–1586
  32. Bausch B, Borozdin W, Mautner VF, et al. Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. J Clin Endocrinol Metab. 2007;92:2784–2792
  33. Bausch B, Koschker AC, Fassnacht M, et al. Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma. J Clin Endocrinol Metab. 2006;91:3478–3481
  34. Kimura N, Watanabe T, Fukase M, Wakita A, Noshiro T, Kimura I. Neurofibromin and NF1 gene analysis in composite pheochromocytoma and tumors associated with von Recklinghausen’s disease. Mod Pathol. 2002;15:183–188
  35. Tobolski O, Friedberg R, Komminoth P, Kessler B. Variante der Neurofibromatose Typ1. Chirurgische Praxis. 1997;52:203–209
  36. Montani M, Schmitt AM, Schmid S, et al. No mutations but an increased frequency of SDHx polymorphisms in patients with sporadic and familial medullary thyroid carcinoma. Endocr Relat Cancer. 2005;12:1011–1016
  37. Favier J, Briere JJ, Strompf L, et al. Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency. Horm Res. 2005;63:171–179
  38. Baysal BE, Ferrell RE, Willett-Brozick JE, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science. 2000;287:848–851
  39. Dannenberg H, van Nederveen FH, Abbou M, et al. Clinical characteristics of pheochromocytoma patients with germline mutations in SDHD. J Clin Oncol. 2005;23:1894–1901
  40. Dannenberg H, Dinjens WN, Abbou M, et al. Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma. Clin Cancer Res. 2002;8:2061–2066
  41. Astuti D, Hart-Holden N, Latif F, et al. Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility. Clin Endocrinol (Oxf). 2003;59:728–733
  42. Schiavi F, Savvoukidis T, Trabalzini F, et al. Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas. Ann N Y Acad Sci. 2006;1073:190–197
  43. Bayley JP, van Minderhout I, Weiss MM, et al. Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma. BMC Med Genet. 2006;7:1
  44. Havekes B, Corssmit EP, Jansen JC, van der Mey AG, Vriends AH, Romijn JA. Malignant paragangliomas associated with mutations in the succinate dehydrogenase D gene. J Clin Endocrinol Metab. 2007;92:1245–1248
  45. Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet. 2000;26:268–270
  46. Schiavi F, Boedeker CC, Bausch B, et al. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA. 2005;294:2057–2063
  47. Pasini B, McWhinney SR, Bei T, et al. 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. 2008;16:79–88
  48. 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;63:5615–5621
  49. Maier-Woelfle M, Brandle M, Komminoth P, et al. A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas. J Clin Endocrinol Metab. 2004;89:362–367
  50. Ricketts C, Woodward ER, Killick P, et al. Germline SDHB mutations and familial renal cell carcinoma. J Natl Cancer Inst. 2008;100:1260–1262
  51. Vanharanta S, Buchta M, McWhinney SR, et al. Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet. 2004;74:153–159
  52. Mariman EC, van Beersum SE, Cremers CW, Struycken PM, Ropers HH. Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity. Hum Genet. 1995;95:56–62
  53. Dahia PL, Hao K, Rogus J, et al. Novel pheochromocytoma susceptibility loci identified by integrative genomics. Cancer Res. 2005;65:9651–9658
  54. Matyakhina L, Bei TA, McWhinney SR, et al. 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. 2007;92:2938–2943
  55. Diment J, Tamborini E, Casali P, Gronchi A, Carney JA, Colecchia M. Carney triad: case report and molecular analysis of gastric tumor. Hum Pathol. 2005;36:112–116
  56. Georgitsi M, Raitila A, Karhu A, et al. Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. J Clin Endocrinol Metab. 2007;92:3321–3325
  57. Pellegata NS, Quintanilla-Martinez L, Siggelkow H, et al. Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci U S A. 2006;103:15558–15563

PII: S1756-2317(09)00002-4

doi: 10.1016/j.mpdhp.2009.01.003

Diagnostic Histopathology
Volume 15, Issue 2 , Pages 61-68 , February 2009