ea0098b2 | Basic Science | NANETS2023
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...