Searchable abstracts of presentations at key conferences in endocrinology

ea0049gp160 | Neuroendocrinology & Growth Hormones | ECE2017

Somatic mutations in USP8 are frequent events in pituitary tumors causing Nelson’s syndrome

Perez-Rivas Luis G , Theodoropoulou Marily , Puar Troy H , Fazel Julia , Stieg Mareike R , Ferrau Francesco , Assie Guillaume , Gadelha Monica R , Deutschbein Timo , Fragoso Maria C , Kusters Benno , Korbonits Marta , Bertherat Jerome , Stalla Gunter K , Hermus Ad R , Beuschlein Felix , Reincke Martin

Recent studies have reported a high prevalence of USP8 mutations in corticotroph adenomas causing Cushing’s disease. Nelson’s syndrome is a potentially life-threatening complication of bilateral adrenalectomy in patients with refractory Cushing’s disease that is caused by the development of an ACTH-secreting tumor in the pituitary gland. Whether USP8 alterations are also present in Nelson’s tumors has not been studied in detail so far....