Familial pheochromocytomas and paragangliomas

Molecular and Cellular Endocrinology - Tập 386 - Trang 92-100 - 2014
Kathryn S. King1, Karel Pacak1
1Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA

Tài liệu tham khảo

Adari, 1988, Guanosine triphosphatase activating protein (GAP) interacts with the p21 ras effector binding domain, Science, 240, 518, 10.1126/science.2833817 Amar, 2005, Genetic testing in pheochromocytoma or functional paraganglioma, J. Clin. Oncol., 23, 8812, 10.1200/JCO.2005.03.1484 Arias-Stella, 1973, The human carotid body at high altitudes, Pathol. et Microbiol., 39, 292 Bausch, 2006, Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma, J. Clin. Endocrinol. Metab., 91, 3478, 10.1210/jc.2006-0780 Bayley, 2010, SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma, Lancet Oncol., 11, 366, 10.1016/S1470-2045(10)70007-3 Baysal, 2000, Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma, Science, 287, 848, 10.1126/science.287.5454.848 Brauckhoff, 2008, Premonitory symptoms preceding metastatic medullary thyroid cancer in MEN 2B: an exploratory analysis, Surgery, 144, 1044, 10.1016/j.surg.2008.08.028 Brouwers, 2006, High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing, J. Clin. Endocrinol. Metab., 91, 4505, 10.1210/jc.2006-0423 Bryant, 2003, Pheochromocytoma: the expanding genetic differential diagnosis, J. Natl Cancer Inst., 95, 1196, 10.1093/jnci/djg024 Burnichon, 2009, The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas, J. Clin. Endocrinol. Metab., 94, 2817, 10.1210/jc.2008-2504 Burnichon, 2010, SDHA is a tumor suppressor gene causing paraganglioma, Hum. Mol. Genet., 19, 3011, 10.1093/hmg/ddq206 Burnichon, 2011, Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma, Hum. Mol. Genet., 20, 3974, 10.1093/hmg/ddr324 Burnichon, 2011, A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma, Eur. J. Endocrinol./Eur. Federa. Endocrine Soc., 164, 141, 10.1530/EJE-10-0758 Burnichon, 2012, MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma, Clin. Cancer Res., 18, 2828, 10.1158/1078-0432.CCR-12-0160 Carmeliet, 1998, Role of HIF-1alpha in hypoxia-mediated apoptosis, cell proliferation and tumour angiogenesis, Nature, 394, 485, 10.1038/28867 Cascon, 2012, MAX and MYC: a heritable breakup, Cancer Res., 72, 3119, 10.1158/0008-5472.CAN-11-3891 Cerecer-Gil, 2010, Mutation of SDHB is a cause of hypoxia-related high-altitude paraganglioma, Clin. Cancer Res., 16, 4148, 10.1158/1078-0432.CCR-10-0637 Chen, 1995, Germline mutations in the von hippel-lindau disease tumor suppressor gene: correlation with phenotype, Hum. Mutat., 5, 66, 10.1002/humu.1380050109 Choyke, 1995, Von Hippel-Lindau disease: genetic, clinical, and imaging features, Radiology, 194, 629, 10.1148/radiology.194.3.7862955 Comino-Mendez, 2011, Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma, Nat. Genet., 43, 663, 10.1038/ng.861 Comino-Mendez, 2013, Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis, Hum. Mol. Genet., 22, 2169, 10.1093/hmg/ddt069 Cornog, 1970, Extra-adrenal pheochromocytoma. Some electron microscopic and biochemical studies, Am. J. Med., 48, 654, 10.1016/0002-9343(70)90018-5 Crona, 2013, Somatic mutations in H-RAS in sporadic pheochromocytoma and paraganglioma identified by exome sequencing, J. Clin. Endocrinol. Metab., 10.1210/jc.2012-4257 Dahia, 2005, A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas, PLoS Genet., 1, 72, 10.1371/journal.pgen.0010008 Delman, 2006, Abdominal visceral lesions in von Hippel-Lindau disease: incidence and clinical behavior of pancreatic and adrenal lesions at a single center, World J. Surg., 30, 665, 10.1007/s00268-005-0359-4 Dwight, 2013, Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma, J. Clin. Endocrinol. Metabol., 10.1210/jc.2013-1400 Eisenhofer, 2004, 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, 11, 897, 10.1677/erc.1.00838 Eisenhofer, 2011, Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma, Clin. Chem., 57, 411, 10.1373/clinchem.2010.153320 Favier, 2010, Pheochromocytomas: the (pseudo)-hypoxia hypothesis, Best Pract. Res. Clin. Endocrinol. Metab., 24, 957, 10.1016/j.beem.2010.10.004 Favier, 2012, HIF2A mutations in paraganglioma with polycythemia, N. Engl. J. Med., 367, 2161, 10.1056/NEJMc1211953 Frank-Raue, 1996, Diagnosis and management of pheochromocytomas in patients with multiple endocrine neoplasia type 2-relevance of specific mutations in the RET proto-oncogene, Eur. J. Endocrinol., 135, 222, 10.1530/eje.0.1350222 Gabriel, 2012, Functional characterization of nonmetastatic paraganglioma and pheochromocytoma by F-FDOPA PET: focus on missed lesions, Clin. Endocrinol. Gill, 2010, Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes, Hum. Pathol., 41, 805, 10.1016/j.humpath.2009.12.005 Gimenez-Roqueplo, 2008, Recent advances in the genetics of phaeochromocytoma and functional paraganglioma, Clin. Exp. Pharmacol. Physiol., 35, 376, 10.1111/j.1440-1681.2008.04881.x Hao, 2009, SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma, Science, 325, 1139, 10.1126/science.1175689 Hensen, 2011, Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients, Clin. Endocrinol., 75, 650, 10.1111/j.1365-2265.2011.04097.x Heutink, 1992, A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter, Hum. Mol. Genet., 1, 7, 10.1093/hmg/1.1.7 Housley, 2010, Renal carcinoma with giant mitochondria associated with germ-line mutation and somatic loss of the succinate dehydrogenase B gene, Histopathology, 56, 405, 10.1111/j.1365-2559.2010.03482.x Howe, 1993, Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia type 2A: results of long-term follow-up, Surgery, 114, 1070 Hu, 2003, Differential roles of hypoxia-inducible factor 1alpha (HIF-1alpha) and HIF-2alpha in hypoxic gene regulation, Mol. Cell. Biol., 23, 9361, 10.1128/MCB.23.24.9361-9374.2003 Ivan, 2002, Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor, Proc. Natl. Acad. Sci. USA, 99, 13459, 10.1073/pnas.192342099 Iyer, 1998, Cellular and developmental control of O2 homeostasis by hypoxia-inducible factor 1 alpha, Genes Dev., 12, 149, 10.1101/gad.12.2.149 Johannessen, 2005, The NF1 tumor suppressor critically regulates TSC2 and mTOR, Proc. Natl. Acad. Sci. USA, 102, 8573, 10.1073/pnas.0503224102 Kaelin, 2008, Oxygen sensing by metazoans: the central role of the HIF hydroxylase pathway, Mol. Cell, 30, 393, 10.1016/j.molcel.2008.04.009 Karasek, 2013, An update on the genetics of pheochromocytoma, J. Hum. Hypertens., 27, 141, 10.1038/jhh.2012.20 King, 2006, Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer, Oncogene, 25, 4675, 10.1038/sj.onc.1209594 King, 2010, The use of functional imaging in a patient with head and neck paragangliomas, J. Clin. Endocrinol. Metab., 95, 481, 10.1210/jc.2009-2214 King, 2011, Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations, J. Clin. Oncol., 29, 4137, 10.1200/JCO.2011.34.6353 Kloos, 2009, Medullary thyroid cancer: management guidelines of the American Thyroid Association, Thyroid, 19, 565, 10.1089/thy.2008.0403 Korpershoek, 2011, SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas, J. Clin. Endocrinol. Metab., 96, 10.1210/jc.2011-1043 Kunst, 2011, SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma, Clin. Cancer Res., 17, 247, 10.1158/1078-0432.CCR-10-0420 Ladroue, 2008, PHD2 mutation and congenital erythrocytosis with paraganglioma, N. Engl. J. Med., 359, 2685, 10.1056/NEJMoa0806277 Lee, 2010, Loss of SDHB and NF1 genes in a malignant phyllodes tumor of the breast as detected by oligo-array comparative genomic hybridization, Cancer Genet. Cytogenet., 196, 179, 10.1016/j.cancergencyto.2009.09.005 Lenders, 2005, Phaeochromocytoma, Lancet, 366, 665, 10.1016/S0140-6736(05)67139-5 Lonser, 2003, Von Hippel-Lindau disease, Lancet, 361, 2059, 10.1016/S0140-6736(03)13643-4 Lopez-Jimenez, 2010, Research resource: transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas, Mol. Endocrinol., 24, 2382, 10.1210/me.2010-0256 Lorenzo, 2013, A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma, J. Mol. Med. (Berl.), 91, 507, 10.1007/s00109-012-0967-z Maher, 1990, Clinical features and natural history of von Hippel-Lindau disease, Q. J. Med., 77, 1151, 10.1093/qjmed/77.2.1151 Maher, 2011, Von Hippel-Lindau disease: a clinical and scientific review, Eur. J. Hum. Genet., 19, 617, 10.1038/ejhg.2010.175 Mannelli, 2009, Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas, J. Clin. Endocrinol. Metab., 94, 1541, 10.1210/jc.2008-2419 Martiniova, 2006, Anatomical and functional imaging of tumors in animal models: focus on pheochromocytoma, Ann. N. Y. Acad. Sci., 1073, 392, 10.1196/annals.1353.043 Martiniova, 2009, Characterization of an animal model of aggressive metastatic pheochromocytoma linked to a specific gene signature, Clin. Exp. Metastasis, 26, 239, 10.1007/s10585-009-9236-0 Martiniova, 2011, Increased uptake of [(1)(2)(3)I]meta-iodobenzylguanidine, [(1)F]fluorodopamine, and [(3)H]norepinephrine in mouse pheochromocytoma cells and tumors after treatment with the histone deacetylase inhibitors, Endocr. Relat. Cancer, 18, 143, 10.1677/ERC-10-0090 Martiniova, 2012, Usefulness of [18F]-DA and [18F]-DOPA for PET imaging in a mouse model of pheochromocytoma, Nucl. Med. Biol., 39, 215, 10.1016/j.nucmedbio.2011.07.007 Maxwell, 1999, The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis, Nature, 399, 271, 10.1038/20459 Min, 2002, Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling, Science, 296, 1886, 10.1126/science.1073440 Moore, 2007, Familial medullary carcinoma prevention, risk evaluation, and RET in children of families with MEN2, J. Pediatr. Surg., 42, 326, 10.1016/j.jpedsurg.2006.10.005 Muller, 2005, SDHC mutations in hereditary paraganglioma/pheochromocytoma, Fam. Cancer, 4, 9, 10.1007/s10689-004-0621-1 1988. National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13–15, 1987, Neurofibromatosis. 1, 172–8. Neumann, 2004, Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations, JAMA, 292, 943, 10.1001/jama.292.8.943 Neumann, 2011, Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites, J. Clin. Endocrinol. Metab., 96, 10.1210/jc.2011-0114 Pacak, 2009, Diagnosis of pheochromocytoma with special emphasis on MEN2 syndrome, Hormones (Athens), 8, 111, 10.14310/horm.2002.1227 Pacak, 2013, New syndrome of paraganglioma and somatostatinoma associated with polycythemia, J. Clin. Oncol., 10.1200/JCO.2012.47.1912 Pasini, 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, 79, 10.1038/sj.ejhg.5201904 Peczkowska, 2013, Testing new susceptibility genes in the cohort of apparently sporadic pheochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes, Clin. Endocrinol., 10.1111/cen.12218 Powers, 2000, Pheochromocytoma cell lines from heterozygous neurofibromatosis knockout mice, Cell Tissue Res., 302, 309, 10.1007/s004410000290 Qin, 2010, Germline mutations in TMEM127 confer susceptibility to pheochromocytoma, Nat. Genet., 42, 229, 10.1038/ng.533 Riccardi, 1991, Neurofibromatosis: past, present, and future, N. Engl. J. Med., 324, 1283, 10.1056/NEJM199105023241812 Ricketts, 2008, Germline SDHB mutations and familial renal cell carcinoma, J. Natl. Cancer Inst., 100, 1260, 10.1093/jnci/djn254 Ricketts, 2010, Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD, Hum. Mutat., 31, 41, 10.1002/humu.21136 Santoro, 1995, Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B, Science, 267, 381, 10.1126/science.7824936 Schiavi, 2005, Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene, JAMA, 294, 2057, 10.1001/jama.294.16.2057 Stratakis, 2009, The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications, J. Intern. Med., 266, 43, 10.1111/j.1365-2796.2009.02110.x Taieb, 2013, First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome, J. Clin. Endocrinol. Metab., 10.1210/jc.2013-1217 Timmers, 2007, Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas, J. Clin. Endocrinol. Metab., 92, 779, 10.1210/jc.2006-2315 Timmers, 2007, Superiority of fluorodeoxyglucose positron emission tomography to other functional imaging techniques in the evaluation of metastatic SDHB-associated pheochromocytoma and paraganglioma, J. Clin. Oncol., 25, 2262, 10.1200/JCO.2006.09.6297 Timmers, 2009, Clinical aspects of SDHx-related pheochromocytoma and paraganglioma, Endocr. Relat. Cancer, 16, 391, 10.1677/ERC-08-0284 Toledo, 2013, In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas, Endocr. Relat. Cancer., 10.1530/ERC-13-0101 van Baars, 1982, Genetic aspects of nonchromaffin paraganglioma, Hum. Genet., 60, 305, 10.1007/BF00569208 van Nederveen, 2009, An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis, Lancet Oncol., 10, 764, 10.1016/S1470-2045(09)70164-0 Walther, 1999, Von Recklinghausen’s disease and pheochromocytomas, J. Urol., 162, 1582, 10.1016/S0022-5347(05)68171-2 Wang, 1995, Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS heterodimer regulated by cellular O2 tension, Proc. Natl. Acad. Sci. USA, 92, 5510, 10.1073/pnas.92.12.5510 Watanabe, 1976, Mitochondrial abnormalities in human phaeochromocytoma, Cell Tissue Res., 172, 281, 10.1007/BF00226032 Wohllk, 2010, Multiple endocrine neoplasia type 2, Best Pract. Res. Clin. Endocrinol. Metab., 24, 371, 10.1016/j.beem.2010.02.001 Yao, 2010, Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas, JAMA, 304, 2611, 10.1001/jama.2010.1830 Zhuang, 2012, Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia, N. Engl. J. Med., 367, 922, 10.1056/NEJMoa1205119 Zoller, 1997, Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population, Cancer, 79, 2125, 10.1002/(SICI)1097-0142(19970601)79:11<2125::AID-CNCR9>3.0.CO;2-N