Endocrine Abstracts (2019) 65 PL6 | DOI: 10.1530/endoabs.65.PL6

Mechanisms and consequences of endocrine autonomy - lessons learned from the adrenal cortex

Felix Beuschlein


UniversitätsSpital Zürich, Zurich, Switzerland. Klinikum der Universität München, Munich, Germany


The advent of new genetic techniques that allow for high-throughput sequencing in surgical tumour tissues and germline DNA has boosted progress in many fields of biomedical research. The technique has been proven to be particularly fruitful in the area of endocrine tumours with many new driver genes being identified over the last few years that are involved in cell growth but more importantly in hormonal autonomy. For the adrenal gland examples account for aldosterone and cortisol producing adrenal adenomas, adrenocortical carcinomas as well as pheochromocytomas. In succession with these insights in genetic contributors in adrenal pathophysiology, deep clinical and biochemical phenotyping has allowed for genotype/phenotype correlations that provide the starting point for improved mechanistic insights. These studies further provide the basis for the implementation of novel diagnostic concepts that make usage of hormonal pattern that derived from the tumors and metabolomic fingerprints that reflect target tissue responses. As to be expected, adjustment of clinical management in patients with adrenal tumours that would rely solely or in great part on genetic information is lacking behind. The presentation will provide an update on the current state of the art in personalized approaches and the yet achieved spectrum of precision medicine for adrenal tumour patients.

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