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Genetics informs precision practice in the diagnosis and management of pheochromocytoma
Authors
Jean Pierre Bayley
Dmitry Beltsevich
+13 more
Carsten C. Boedeker
Frederic Castinetti
Gim
Harald Thomas Groeben
Tobias Krauss
Hartmut P. Neumann
Giuseppe Opocher
Juri Ruf
Francesca Schiavi
Amit Tirosh
Ernst Von Dobschuetz
Martin Walz
William F. Young
Publication date
1 January 2018
Publisher
'Bioscientifica'
Doi
Cite
Abstract
© 2018 Society for Endocrinology Published by Bioscientifica Ltd. Although the authors of the present review have contributed to genetic discoveries in the field of pheochromocytoma research, we can legitimately ask whether these advances have led to improvements in the diagnosis and management of patients with pheochromocytoma. The answer to this question is an emphatic Yes! In the field of molecular genetics, the well-established axiom that familial (genetic) pheochromocytoma represents 10% of all cases has been overturned, with >35% of cases now attributable to germline disease-causing mutations. Furthermore, genetic pheochromocytoma can now be grouped into five different clinical presentation types in the context of the ten known susceptibility genes for pheochromocytoma-associated syndromes. We now have the tools to diagnose patients with genetic pheochromocytoma, identify germline mutation carriers and to offer gene-informed medical management including enhanced surveillance an
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Last time updated on 19/04/2019