28
Views
0
CrossRef citations to date
0
Altmetric
Review

Genetics of chromaffin tumors

Pages 143-151 | Published online: 10 Jan 2014

References

  • Tischler AS, Kimura N, McNicol AM. Pathology of pheochromocytoma and extra-adrenal paraganglioma. Ann. NY Acad. Sci.1073, 557–570 (2006).
  • Pacak K, Eisenhofer G, Ahlman H et al. Pheochromocytoma: recommendations for clinical practice from the first international symposium. Nat. Clin. Pract. Endocrinol. Metab.3, 92–102 (2007).
  • Amar L, Baudin E, Burnichon N et al. Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. J. Clin. Endocrinol. Metab.92, 3822–3828 (2007).
  • Neumann HP, Vortmeyer A, Schmidt D et al. Evidence of MEN-2 in the original description of classic pheochromocytoma. N. Engl. J. Med.357, 1311–1315 (2007).
  • Neumann HP, Bausch B, McWhinney SR et al. Germ-line mutations in nonsyndromic pheochromocytoma. N. Engl. J. Med.346, 1459–1466 (2002).
  • Amar L, Bertherat J, Baudin E et al. Genetic testing in pheochromocytoma and functional paraganglioma. J. Clin. Oncol.23, 8812–8818 (2005).
  • Gimenez-Roqueplo AP, Lehnert H, Mannelli H et al. Phaeochromocytoma, new genes and screening strategies. Clin. Endocrinol. (Oxf.)65, 699–705 (2006).
  • Plouin PF, Gimenez-Roqueplo AP. The genetic basis of pheochromocytoma: who to screen and how? Nat. Clin. Pract. Endocrinol. Metab.2, 60–61 (2006).
  • Maher ER and Eng C. The pressure rises: update on the genetics of phaeochromocytoma. Hum. Mol. Genet.11, 2347–2354 (2002).
  • Gutmann DH, Aylsworth A, Carey JC et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA278, 51–57 (1997).
  • Lee MJ, Stephenson DA. Recent developments in neurofibromatosis type 1. Curr. Opin. Neurol.20, 135–141 (2007).
  • Bausch B, Borozdin W, Neumann HP et al. Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma. N. Engl. J. Med.354, 2729–2731 (2006).
  • 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.92, 2784–2792 (2007).
  • Radtke HB, Sebold CD, Allison C, Haidle JL, Schneider G. Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J. Genet. Couns.16, 387–407 (2007).
  • Plaza-Menacho I, Burzynski GM, de Groot JW, Eggen BJ, Hofstra RM. Current concepts in RET-related genetics, signaling and therapeutics. Trends Genet.22, 627–636 (2006).
  • Brandi ML, Gagel RF, Angeli A et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J. Clin. Endocrinol. Metab.86, 5658–5671 (2001).
  • Machens A, Niccoli-Sire P, Hoegel J et al. Early malignant progression of hereditary medullary thyroid cancer. N. Engl. J. Med.349, 1517–1525 (2003).
  • Skinner MA, Moley JA, Dilley WG, Owzar K, Debenedetti MK, Wells SA Jr. Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. N. Engl. J. Med.353, 1105–1113 (2005).
  • Lonser RR, Glenn GM, Walther M et al. von Hippel–Lindau disease. Lancet361, 2059–2067 (2003).
  • Ong KR, Woodward ER, Killick P, Lim C, Macdonald F, Maher ER. Genotype-phenotype correlations in von Hippel–Lindau disease. Hum. Mutat.28, 143–149 (2007).
  • Baysal BE. On the association of succinate dehydrogenase mutations with hereditary paraganglioma. Trends Endocrinol. Metab.14, 453–459 (2003).
  • Bayley JP, Devilee P, Taschner PE. The β mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. BMC Med. Genet.6, 39 (2005).
  • Mannelli M, Ercolino T, Giachè V, Simi L, Cirami C, Parenti G. Genetic screening for pheochromocytoma: should SDHC gene analysis be included. J. Med. Genet.44, 586–587 (2007).
  • Baysal BE. Clinical and molecular progress in hereditary paraganglioma. J. Med. Genet.45, 689–694 (2008).
  • Hensen EF, Jordanova ES, van Minderhout IJ et al. Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. Oncogene23, 4076–4083 (2004).
  • 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.63, 5615–5621 (2003).
  • Timmers HJ, Pacak K, Bertherat J et al. Mutations associated with succinate dehydrogenase D-related malignant paragangliomas. Clin. Endocrinol. (Oxf.)68, 561–566 (2008).
  • 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.16, 79–88 (2008)
  • Eng C. SDHB – a gene for all tumors? J. Natl Cancer Inst.100(17), 1193–1195 (2008).
  • Brière JJ, Favier J, El Ghouzzi V et al. Succinate dehydrogenase deficiency in human. Cell Mol. Life Sci.62, 2317–2324 (2005).
  • Benn DE, Gimenez-Roqueplo AP, Reilly Jr et al. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J. Clin. Endocrinol. Metab.91, 827–836 (2006).
  • Dahia PL, Ross KN, Wright ME et al. A HIF1α regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet.1, 72–80 (2005).
  • Bertout JA, Patel SA, Simon MC. The impact of O2 availability on human cancer. Nat. Rev. Cancer8(12), 967–975 (2008).
  • Gimenez-Roqueplo AP, Favier J, Rustin P et al. The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. Am. J. Hum. Genet.69, 1186–1197 (2001)
  • Brière JJ, Favier J, Bénit P et al. Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions. Hum. Mol. Genet.14, 3263–3269 (2005).
  • Selak MA, Armour SM, MacKenzie ED et al. Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-α prolyl hydroxylase. Cancer Cell7, 77–85 (2005).
  • Guzy RD, Sharma B, Bell E, Chandel NS, Schumacker PT. Loss of the SDHB, but not the SDHA, subunit of complex II triggers reactive oxygen species-dependent hypoxia-inducible factor activation and tumorigenesis. Mol. Cell Biol.28, 718–731 (2008).
  • Kaelin WG Jr. The von Hippel–Lindau tumour suppressor protein: O2 sensing and cancer. Nat. Rev. Cancer.8, 865–873 (2008).
  • Maxwell PH. A common pathway for genetic events leading to pheochromocytoma. Cancer Cell8, 91–93 (2005).
  • Joshua AM, Ezzat S, Asa SL et al. Rationale and evidence for sunitnib in the treatment of malignant paraganglioma/pheochromocytoma (MPP). J. Clin. Endocrinol. Metab.94(1), 5–9 (2008).
  • Jimenez C, Cabanillas ME, Santarpia L et al. Use of the tyrosine kinase inhibitor sunitinib in a patient with von Hippel–Lindau disease: targeting angiogenic factors in pheochromocytoma and other von Hippel–Lindau disease-related tumors. J. Clin. Endocrinol. Metab.94(2), 386–391 (2008).
  • Schlisio S, Kenchappa RS, Vredeveld LC et al. The kinesin KIF1Bβ acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. Genes Dev.22(7), 884–893 (2008)
  • Ladroue C, Carcenac R, Leporrier M et al.PHD2 mutation and congenital erythrocytosis with paraganglioma. N. Engl. J. Med.359(25), 2685–2692 (2008).
  • van Baars F, van den Broek P, Cremers C, Veldman J. Familial non-chromaffinic paragangliomas (glomus tumors): clinical aspects. Laryngoscope91, 988–996 (1981).
  • Mariman EC, van Beersum SE, Cremers CW et al. Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q. Hum. Genet.91, 357–361 (1993).
  • Dahia PL, Hao K, Rogus J et al. Familial Pheochromocytoma Consortium. Novel pheochromocytoma susceptibility loci identified by integrative genomics. Cancer Res.65, 9651–9658 (2005).
  • Neumann HP, Pawlu C, Peczkowska M et al. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA292, 943–951 (2004).
  • Schiavi F, Boedeker CC, Bausch B et al. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA294, 2057–2063 (2005).
  • Bornstein SR, Gimenez-Roqueplo AP. Genetic testing in pheochromocytoma: increasing importance for clinical decision making. Ann. NY Acad. Sci.1073, 94–103 (2006).
  • Jiménez C, Cote G, Arnold A et al. Should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes. J. Clin. Endocrinol. Metab.91, 2851–2852 (2006).
  • Pigny P, Bauters C, Do Cao C et al. Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation? Eur. J. Endocrinol.160(2), 227–231 (2008).
  • Erlic Z, Neumann HP. Clinical question: When should genetic testing be obtained in a patient with pheochromocytoma or paraganglioma? Clin. Endocrinol. (Oxf.) DOI: 10.1111/j.1365-2265.2008.03480.x (2008) (Epub ahead of print).
  • Gimenez-Roqueplo AP, Lahlou-Laforêt K. Psychological aspects of genetic diagnosis of endocrine tumors. Ann. Endocrinol. (Paris)66, 284–288 (2005).
  • Fraser L, Watts S, Cargill A et al. Study comparing two types of screening provision for people with von Hippel–Lindau disease. Fam. Cancer6, 103–111 (2007).

Website

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.