Endocrine Abstracts

Introduction: Malignant paraganglioma/pheochromocytoma (MPP) are very rare neuroendocrine tumors with heterogeneous prognostic and no gold-standard treatment. MPP can be associated with germline mutations at SDH-x genes which encode for the succinate dehydrogenase that catalyzes the oxidation of succinate to fumarate. SDH-x mutations lead to inactivation of the enzyme and thus accumulation of succinate.Aim: This project aims to evaluate...

Background: Immune checkpoint inhibitors (ICIs) are approved for the treatment of non-small cell lung cancer (NSCLC) and are associated with specific immune-related adverse events (iRAEs) including endocrine toxicities. However, data concerning the type, occurrence, and dynamics of iRAEs and their predictive value on treatment outcome are lacking. In this study, we evaluated the relation of iRAEs to anti-PD/L1 (programmed cell death protein/ligand-1) ICIs focusing particularly...

Objectives: NTRK gene fusions are oncogenic drivers in many solid tumours, including thyroid cancers. In the phase 2 study STARTRK-2 (NCT02568267), entrectinib (a CNS-active tropomyosin receptor kinase [TRK] inhibitor) demonstrated efficacy in patients with NTRK-fp thyroid cancer (objective response rate [ORR]: 40%; clinical cut-off: 31 Oct 2018; n=5). We report updated data from a larger cohort with longer follow-up.Methods: A...

The 11-beta hydroxysteroid dehydrogenase (11βHSD) isozymes are well-known regulators of glucocorticoid hormone metabolism: 11βHSD2, mostly expressed in the distal nephron, converts cortisol [F] into cortisone [E] in humans or corticosterone into 11-dehydrocorticosterone in rodents (11-dehydro derivatives being inactive compounds), and 11βHSD1, ubiquitously expressed but predominantly in the liver, catalyzes the opposite reaction. Under pathophysiological conditi...

Adrenocortical cancer (ACC) is a rare cancer with poor prognosis and scant treatment options.Purpose: To look for new therapeutic approaches issued from the screening for common genetic variants in a large series of advanced ACC.Experimental design: Whole exome sequencing have been performed in 10 advanced (stage III and IV) ACC samples to identify the recurrent variants. The presence and the frequency of most interesting variants ...