Estudio de mutaciones germinales en pacientes con feocromocitomas y paragangliomas atendidos en un hospital universitario de tercer nivel: ¿qué pacientes se estudian y qué resultados se encuentran?

Lenders, 2014, Pheochromocytoma and paraganglioma: An Endocrine Society Clinical Practice Guideline, J Clin Endocrinol Metab., 99, 1915, 10.1210/jc.2014-1498 Favier, 2015, Paraganglioma and pheochromocytoma: From genetics to personalized medicine, Nat Rev Endocrinol., 11, 101, 10.1038/nrendo.2014.188 Gimenez-Roqueplo, 2012, An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes, Horm Metab Res., 44, 328, 10.1055/s-0031-1301302 Crona, 2017, New perspectives on pheochromocytoma and paraganglioma: Toward a molecular classification, Endocr Rev., 38, 489, 10.1210/er.2017-00062 Rattenberry, 2013, A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma, J Clin Endocrinol Metab., 98, 1248, 10.1210/jc.2013-1319 Welander, 2014, Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma, J Clin Endocrinol Metab., 99, 1352, 10.1210/jc.2013-4375 Currás-Freixes, 2017, PheoSeq: A targeted next-generation sequencing assay for pheochromocytoma and paraganglioma diagnostics, J Mol Diagn., 19, 575, 10.1016/j.jmoldx.2017.04.009 Burnichon, 2011, Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma, Hum Mol Genet., 20, 3974, 10.1093/hmg/ddr324 Cascón, 2009, Genetics of pheochromocytoma and paraganglioma in Spanish patients, J Clin Endocrinol Metab., 94, 1701, 10.1210/jc.2008-2756 Currás-Freixes, 2015, Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients, J Med Genet., 52, 647, 10.1136/jmedgenet-2015-103218 Erlic, 2009, Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients, Clin Cancer Res., 15, 6378, 10.1158/1078-0432.CCR-09-1237 Fishbein, 2013, Inherited mutations in pheochromocytoma and paraganglioma: Why all patients should be offered genetic testing, Ann Surg Oncol., 20, 1444, 10.1245/s10434-013-2942-5 Jafri, 2013, Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paragangliom, Clin Endocrinol., 78, 898, 10.1111/cen.12074 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 Yao, 2010, Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas, JAMA., 304, 2611, 10.1001/jama.2010.1830 Comino-Mendez, 2011, Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma, Nat Genet., 43, 663, 10.1038/ng.861