@article{730d31d764774c18a1c02030554dda62,
title = "A RET::GRB2 fusion in pheochromocytoma defies the classic paradigm of RET oncogenic fusions",
abstract = "The RET kinase receptor is a target of mutations in neural crest tumors, including pheochromocytomas, and of oncogenic fusions in epithelial cancers. We report a RET::GRB2 fusion in a pheochromocytoma in which RET, functioning as the upstream partner, retains its kinase domain but loses critical C-terminal motifs and is fused to GRB2, a physiological RET interacting protein. RET::GRB2 is an oncogenic driver that leads to constitutive, ligand-independent RET signaling; has transforming capability dependent on RET catalytic function; and is sensitive to RET inhibitors. These observations highlight a new driver event in pheochromocytomas potentially amenable for RET-driven therapy.",
keywords = "GRB2, RET fusion, RET mutation, driver genetic events, oncogenic fusion, paraganglioma, pheochromocytoma, pralsetinib, selpercatinib, tyrosine kinase inhibitor",
author = "Estrada-Zuniga, {Cynthia M.} and Cheng, {Zi Ming} and Purushoth Ethiraj and Qianjin Guo and Hector Gonzalez-Cant{\'u} and Elaina Adderley and Hector Lopez and Landry, {Bethany N.} and Abir Zainal and Neil Aronin and Yanli Ding and Xiaojing Wang and Aguiar, {Ricardo C.T.} and Dahia, {Patricia L.M.}",
note = "Funding Information: We are grateful to the patients who donated samples to the study. We acknowledge the UTHSCSA Genomics and Optical Imaging Core Facilities for services, supported by NIH - P30-CA54174 , and the South Texas Research Laboratory (STRL) Histology-Immunohistochemistry Laboratory at UTHSA and Ms. Dominie Cerda for processing histological samples. P.L.M.D. is a recipient of funds from the NIH ( GM114102 and CA264248 ) and the Neuroendocrine Tumor Research Foundation and is the holder of the Robert Tucker Hayes Distinguished Chair in Oncology. This work was supported by funds from UT System Star Awards (to P.L.M.D.). R.C.T.A. acknowledges funding support from NIH R01ES031522 , NIH R01GM140456 , I01BX001882 ( Veterans Administration Merit Award), and RP190043 ( CPRIT ). Publisher Copyright: {\textcopyright} 2022 The Author(s)",
year = "2022",
month = jul,
day = "19",
doi = "10.1016/j.xcrm.2022.100686",
language = "English (US)",
volume = "3",
journal = "Cell Reports Medicine",
issn = "2666-3791",
publisher = "Cell Press",
number = "7",
}