Feocromocitoma-paraganglioma: del diagnóstico bioquímico al genético

Nefrología - Tập 36 - Trang 481-488 - 2016
Marta Cano Megías1, Diego Rodriguez Puyol1, Loreto Fernández Rodríguez1, Gloria Lisette Sención Martinez1, Patricia Martínez Miguel1
1Servicio de Nefrología, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, España

Tài liệu tham khảo

Plouin, 2010, Phaeochromocytomas and functional paragangliomas: Clinical management, Best Pract Res Clin Endocrinol Metab., 24, 933, 10.1016/j.beem.2010.10.002 Lenders, 2014, Pheochromocytoma and paraganglioma: An endocrine society clinical practice guideline, J Clin Endocrinol Metab., 99, 1915, 10.1210/jc.2014-1498 Karagiannis, 2007, Pheochromocytoma: An update on genetics and management, Endocr Relat Cancer., 14, 935, 10.1677/ERC-07-0142 Favier, 2015, Paraganglioma and phaeochromocytoma: From genetics to personalized medicine, Nat Rev Endocrinol., 11, 101, 10.1038/nrendo.2014.188 Pacak, 2015, Pheochromocytoma and paraganglioma, Endocr Pract., 21, 406, 10.4158/EP14481.RA Opocher, 2010, Genetics of pheochromocytomas and paragangliomas, Best Pract Res Clin Endocrinol Metab., 24, 943, 10.1016/j.beem.2010.05.001 Jafri, 2012, The genetics of phaeochromocytoma: Using clinical features to guide genetic testing, Eur J Endocrinol., 166, 151, 10.1530/EJE-11-0497 Galan, 2013, Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma, Clin Endocrinol., 78, 165, 10.1111/cen.12071 Jiménez, 2006, Should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes?, J Clin Endocrinol Metab., 91, 2851, 10.1210/jc.2005-2178 La Batide-Alanore, 2003, Diabetes as a marker of pheochromocytoma in hypertensive patients, J Hypertens., 21, 1703, 10.1097/00004872-200309000-00020 Berkel, 2014, Biochemical diagnosis of phaeochromocytoma and paraganglioma, Eur J Endocrinol., 170, 109, 10.1530/EJE-13-0882 Eisenhofer, 2011, Measurements of plasma methoxytyramine, normetanephhine and metanephrine as discriminators of different hereditary forms of pheochromocytoma, Clin Chem, 57, 411, 10.1373/clinchem.2010.153320 Plouin, 2006, Pheochromocytomas and secreting paragangliomas, Orphanet J Rare Dis., 8, 1 Martucci, 2014, Pheochromocytoma and paraganglioma: Diagnosis, genetics, management, and treatment curr probl cancer., 38, 7 Timmers, 2009, Clinical aspects of SDHx-related pheochromocytoma and paraganglioma, Endocr Relat Cancer., 16, 391, 10.1677/ERC-08-0284 Timmers, 2008, Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene, J Clin Endocrinol Metab., 93, 4826, 10.1210/jc.2008-1093 Van Duinen, 2010, Increased urinary excretion of 3-methoxytyramine in patients with head and neck paragangliomas, J Clin Endocrinol Metab, 95, 209, 10.1210/jc.2009-1632 Coleman, 2011, Pheochromocytoma, Appl Radiol., 40, 26, 10.37549/AR1845 McDermott, 2010, Radiological evaluation of adrenal incidentalomas–Current methods and future prospects, Best Pract Res Clin Endocrinol Metab., 24, 943 Aron, 2012, Adrenal incidentalotas, Best Pract Res Clin Endocrinol Metab., 26, 69, 10.1016/j.beem.2011.06.012 Taïeb, 2012, EANM 2012 guidelines for radionuclide Imaging of phaeochromocytoma and paraganglioma, Eur J Nucl Med Mol Imaging., 39, 1977, 10.1007/s00259-012-2215-8 Havekes, 2010, New imaging aproaches to pheochromocyotmas and paragangliomas, Clin Endocrinol (Oxf)., 72, 137, 10.1111/j.1365-2265.2009.03648.x Plouin, 2006, Initial work-up and long-term follow-up in patients with phaeochromocytomas and paragangliomas, Best Pract Res Clin Endocrinol Metab., 421, 10.1016/j.beem.2006.07.004 Berkel, 2014, Should every patient diagnosed with a phaeochromocytoma have a 123-IMIGB scintigraphy?, Clin Endocrinol, 81, 329, 10.1111/cen.12482 Hammond, 2010, Childhood phaeochromocytoma and paraganglioma: 100% incidente of genetic mutations and 100% survival, J Pediatr Surg., 45, 383, 10.1016/j.jpedsurg.2009.10.082 Pham, 2006, Pheochromocytoma and paraganglioma in children: A review of medical and surgical management at a tertiary care center, Pediatrics, 1109, 10.1542/peds.2005-2299 Eisenhofer, 2001, Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes, J Clin Endocrinol Metab, 86, 1999, 10.1210/jcem.86.5.7496 Taieb, 2014, Diagnosis and preoperative imaging of multiple endocrine neoplasia type 2: Current status and future directions, J Clin Endocrinol Metab., 81, 317 Lenders, 2005, Phaeochromocytoma, Lancet, 366, 665, 10.1016/S0140-6736(05)67139-5 Eisenhofer, 2012, Plasma methoxytyramine: A novel biomarker of metastatic pheochromocytoma and paraganglioma in relation to established risk factors of tumour size, location and SDHB mutation status, Eur J Cancer., 48, 1739, 10.1016/j.ejca.2011.07.016 Pacak, 2001, 6-[18F]fluorodopamine positron emission tomographic (PET) scanning for diagnostic localization of pheochromocytoma, Hypertension., 38, 6, 10.1161/01.HYP.38.1.6 Ilias, 2004, Current approaches and recommended algorithm for the diagnostic localization of pheochromocytoma, J Clin Endocrinol Metab., 89, 479, 10.1210/jc.2003-031091 Fishbein, 2012, Pheochromocytoma and paraganglioma understanding the complexities of the genetic background, Cancer Genet., 205, 1, 10.1016/j.cancergen.2012.01.009 Welander, 2011, Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas, Endocr Relat Cancer., 18, 253, 10.1530/ERC-11-0170 Van Berkel, 2014, Correlation between in vivo 18F-FDG PET and immunohistochemical markers of glucose uptake and metabolism in pheochromocytoma and paraganglioma, J Nucl Med., 55, 1253, 10.2967/jnumed.114.137034 Taieb, 2014, Renaissance of 18F-FDG positron emission tomography in the imaging of pheochromocyotma/paraganglioma, J Clin Endocrinol Metab., 99, 2337, 10.1210/jc.2014-1048 Burnichon, 2012, MAX mutations cause hereditary and sporadic pheocromocytoma and paraganglioma, Clin Cancer Res, 18, 2828, 10.1158/1078-0432.CCR-12-0160 Reisch, 2006, Pheochromocytoma: Presentation, diagnosis and treatment, J Hypertens, 24, 2331, 10.1097/01.hjh.0000251887.01885.54 Kronenberg HM, Melmed S, Polonsky KS, Reed Larsen P. Hipertensión de origen endocrino. En: Tratado de endocrinología. Elsevier Saunders (Eds). Barcelona: Elsevier; 2009. p. 521 tabla 15-5.