Searchable abstracts of presentations at key conferences in endocrinology

ea0094ret2.1 | Section | SFEBES2023

Cellular mechanisms of RET dysfunction in cancer cells

Mulligan Lois , Walker Tim , Hyndman Brandy , Reyes-Alvarez Eduardo , Oliveira Larissa , Richardson Douglas , Antonescu Costin

The RET receptor tyrosine kinase is an established oncogenic driver in multiple cancers. Activating RET point mutations give rise to the cancer syndrome Multiple Endocrine Neoplasia type 2 (MEN2), characterized by medullary thyroid carcinoma and pheochromocytoma. Correlations of specific RET mutations with MEN2 disease phenotypes and severity have been well documented, however the molecular mechanisms that distinguish the functions, locations, and protein interactions of speci...

ea0098b2 | Basic Science | NANETS2023

TMEM127 exerts a tumor suppressive role in pheochromocytoma by mediating RET ubiquitin-dependent degradation

Gonzalez-Cantu Hector , Guo Qianjin , Cheng Zi-Ming , Rotondi Matthew , Huelgas-Morales Gabriela , Lefkowitz Jonathan , Ethiraj Purushoth , Qiu Zhijun , Song Wan , Landry Bethany N. , Lopez Hector , Estrada-Zuniga Cynthia M. , Goyal Shivi , Aasif Khan Mohammad , Walker Timothy J. , Wang Exing , Li Fagian , Ding Yanli , Aguiar Ricardo C. T. , Mulligan Lois M. , Dahia Patricia L. M.

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...