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This is an open access article under the CC BY-NC-ND license (). Feocromocitoma-paraganglioma: del diagnóstico bioquímico al genético. * Please cite this article as: Cano Megías M, Rodriguez Puyol D, Fernández Rodríguez L, Sención Martinez GL, Martínez Miguel P. Palabras clave: Feocromocitoma Paraganglioma Genética Los avances en la investigación genética han permitido identificar múltiples genes implicados en la fisiopatogenia de estos tumores, de forma que hasta el 35-45% Los feocromocitomas y paragangliomas son tumores derivados de células de la cresta neural, que pueden ser diagnosticados mediante la determinación bioquímica de metanefrinas y metoxitiramina. This is an open access article under the CC BY-NC-ND license (įeocromocitoma-paraganglioma: del diagnóstico bioquímico al genético 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. 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. 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.
Advances in genetic research have identified many genes involved in the pathogenesisĪvailable online 8 December 2016 of these tumours, suggesting that up to 35-45% may have an underlying germline mutation. Received which can be diagnosed by biochemical measurement of metanephrine and methoxytyra-Īccepted 22 March 2016 mine.
Servicio de Nefrología, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, SpainĪrticle history: Pheochromocytomas and paragangliomas are tumours derived from neural crest cells, Marta Cano Megías*, Diego Rodriguez Puyol, Loreto Fernández Rodríguez, Gloria Lisette Sención Martinez, Patricia Martínez Miguel
Pheochromocytoma-paraganglioma: Biochemical and genetic diagnosis^ 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. 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. Pheochromocytomas and paragangliomas are tumours derived from neural crest cells, which can be diagnosed by biochemical measurement of metanephrine and methoxytyramine. Abstract of research paper on Clinical medicine, author of scientific article - Marta Cano Megías, Diego Rodriguez Puyol, Loreto Fernández Rodríguez, Gloria Lisette Sención Martinez, Patricia Martínez Miguel
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