Endocrine Abstracts

Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumours, located in the adrenal medulla (PCC) and in the intra-abdominal, thoracic or head and neck paraganglia (PGL). They have the highest heritability of all human neoplasms being a good example of diseases with underlying genetic heterogeneity. In this regard, at least 40% of PCC/PGL (PPGL) patients carry a germline mutation in one of the 22 genes described so far as related to the disease. In additio...

Born in Madrid, Mercedes Robledo studied at the Universidad Autónoma de Madrid where she graduated in Biology in 1987. She then joined the Genetic Department of the same University supervised by J Fernández-Piqueras, working on the cytogenetic and molecular features of heterochromatin. In 1989, under the supervision of J Benitez, she studied the characterization of chromosomal and molecula...