title: Pheochromocytoma-paraganglioma: Biochemical and genetic diagnosis.
abstract: Pheochromocytomas and paragangliomas are tumours derived from neural crest cells, which can be diagnosed by biochemical measurement of metanephrine and methoxytyramine. Advances in genetic research have identified many genes involved in the pathogenesis of these tumours, suggesting that up to 35-45% may have an underlying germline mutation. These genes have a singular transcriptional signature and can be grouped into 2 clusters (or groups): cluster 1 (VHL and SHDx), involved in angiogenesis and hypoxia pathways; and cluster 2 (MEN2 and NF1), linked to the kinase signalling pathway. In turn, these genes are associated with a characteristic biochemical phenotype (noradrenergic and adrenergic), and clinical features (location, biological behaviour, age of presentation, etc.) in a large number of cases. Early diagnosis of these tumours, accompanied by a correct genetic diagnosis, should eventually become a priority to enable better treatment, early detection of complications, proper screening of family members and related tumours, as well as an improvement in the overall prognosis of these patients.
authors.affiliation: Servicio de Nefrología, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, España. Electronic address: mcanomegias@gmail.com.
authors.forename: Marta
authors.initials: M
authors.lastname: Cano Megías
authors.affiliation: Servicio de Nefrología, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, España.
authors.forename: Diego
authors.initials: D
authors.lastname: Rodriguez Puyol
authors.affiliation: Servicio de Nefrología, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, España.
authors.forename: Loreto
authors.initials: L
authors.lastname: Fernández Rodríguez
authors.affiliation: Servicio de Nefrología, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, España.
authors.forename: Gloria Lisette
authors.initials: GL
authors.lastname: Sención Martinez
authors.affiliation: Servicio de Nefrología, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, España.
authors.forename: Patricia
authors.initials: P
authors.lastname: Martínez Miguel
mesh_terms: D006801:Humans; D025542:Neurofibromin 1 / Q000235:genetics; D010235:Paraganglioma / Q000175:diagnosis* / Q000235:genetics*; D010673:Pheochromocytoma / Q000175:diagnosis* / Q000235:genetics*; D011379:Prognosis; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics; D015398:Signal Transduction; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics
chemical_list: D025542:Neurofibromin 1; D011518:Proto-Oncogene Proteins; C484611:SHD protein, human; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; C497446:VHL protein, human
keywords: Feocromocitoma; Functional imaging; Genetics; Genética; Imagen funcional; MEN2; Paraganglioma; Pheochromocytoma; SDHx; VHL