ea0037s18.3 | New genetics of pituitary tumours (<emphasis role="italic">Endorsed by the European Journal of Endocrinology</emphasis>) | ECE2015
Reincke Martin
Cushings disease is caused by corticotroph adenomas of the pituitary. To explore molecular mechanisms of endocrine autonomy, we recently performed exome sequencing of 10 corticotroph adenomas1 identifying somatic mutations in the USP8 deubiquitinase gene in 4 of 10 adenomas. The mutations clustered in the 14-3-3 protein binding motif enhancing proteolytic cleavage and catalytic activity of USP8. Cleaved USP8 led to increased EGF receptor deubiquitination impai...