Pheochromocytoma-paraganglioma: Biochemical and genetic diagnosis

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• 作者：Marta Cano Megí ; as ; ^{mcanomegias@gmail.com} ; Diego Rodriguez Puyol ; Loreto Ferná ; ndez Rodrí ; guez ; Gloria Lisette Senció ; n Martinez ; Patricia Martí ; nez Miguel
• 关键词：Pheochromocytoma ; Paraganglioma ; Genetics ; Functional imaging ; VHL ; MEN2 ; SDHx
• 刊名：Nefrología (English Edition)
• 出版年：2016
• 出版时间：September-October 2016
• 年：2016
• 卷：36
• 期：5
• 页码：481-488
• 全文大小：279 K
• 卷排序：36

文摘

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.