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Endocrine Abstracts

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ea0056oc11.4 | Clinical practice in endocrine tumours: combining conventional and molecular features | ECE2018

Update in the genetic landscape of Cushing’s Disease: TP53 and a new deubiquitinase in spotlight

Sbiera Silviu , Popov Nikita , Weigand Isabel , Flitsch Jorg , Perez-Rivas Luis Gustavo , Taranets Lyudmyla , Graf Elisabeth , Monoranu Camelia-Maria , Saeger Wolfgang , Hagel Christian , Theodoropoulou Marily , Stalla Gunther , Herterich Sabine , Ronchi Cristina L. , Deutschbein Timo , Reincke Martin , Strom Tim M. , Fassnacht Martin

Introduction: Cushing’s disease (CD) is caused by pituitary tumors hypersecreting adrenocorticotropin (ACTH). Until now somatic mutations in the 14-3-3 binding domain of Ubiquitin Specific Peptidase 8 gene (USP8) were the only recurring, driver mutations and were described in about 40% of the 446 CD samples that have been analysed wordwide. We wanted to assess if other driver mutations might be the pathogenetic cause of CD in those tumors without USP8 mu...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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