Endocrine Abstracts

The neural crest-derived, catecholamine-secreting tumors pheochromocytomas and paragangliomas are genetically heterogeneous. More than one-third of these tumors result from germline mutations in one of at least ten genes that belong to a variety of functional classes. Characterization of the molecular signals transduced by these genes and their respective mutants has enhanced our understanding of kinase signaling pathways, hypoxia regulation, and the link between metabolic dis...

Background: TMEM127 encodes for a ubiquitously expressed transmembrane protein with limited knowledge into its role. TMEM127 germline loss-of-function is a driver of pheochromocytoma and paraganglioma (PPGLs), tumors derived from the adrenal medulla and extra-adrenal paraganglia, respectively. Molecularly, TMEM127 mutant PPGLs belong to the kinase cluster, characterized by kinase signaling transcriptional programs. Receptor tyrosine kinase RET, a driver of PPGLs via germline o...