2022
DOI: 10.1016/j.xcrm.2022.100686
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A RET::GRB2 fusion in pheochromocytoma defies the classic paradigm of RET oncogenic fusions

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Cited by 4 publications
(3 citation statements)
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“…The RET gene is a well-established PGL susceptibility gene as part of Multiple Endocrine Neoplasia type 2A and type 2B syndromes, and less commonly as a somatically mutated oncogene, but only recently was it detected as part of recombinant fusion in PGLs ( Mweempwa et al 2021 , Estrada-Zuniga et al 2022 ). These fusions are distinct from conventional RET rearrangements detected in epithelial cancers such as lung and thyroid ( Grieco et al 1990 , Kohno et al 2012 , Santoro et al 2020 ) in the positioning of the fusion partners.…”
Section: News From ‘Old’ Pgl Susceptibility Genesmentioning
confidence: 99%
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“…The RET gene is a well-established PGL susceptibility gene as part of Multiple Endocrine Neoplasia type 2A and type 2B syndromes, and less commonly as a somatically mutated oncogene, but only recently was it detected as part of recombinant fusion in PGLs ( Mweempwa et al 2021 , Estrada-Zuniga et al 2022 ). These fusions are distinct from conventional RET rearrangements detected in epithelial cancers such as lung and thyroid ( Grieco et al 1990 , Kohno et al 2012 , Santoro et al 2020 ) in the positioning of the fusion partners.…”
Section: News From ‘Old’ Pgl Susceptibility Genesmentioning
confidence: 99%
“…In PGLs, RET is the 5′ partner of the fusion, while in epithelial tumors, it is invariably positioned as the downstream partner of the fusion. Despite this distinct recombination architecture, RET fusions in PGLs share other features of the more typical RET recombinant proteins: they lead to constitutive activation of RET and its downstream effectors, endow target cells with oncogenic phenotypes ( Ou & Zhu 2020 , Santoro et al 2020 , Estrada-Zuniga et al 2022 ), and are responsive to highly selective, clinical grade RET inhibitors selpercatinib and pralsetinib ( Subbiah et al 2018 , Wirth et al 2020 , Mweempwa et al 2021 , Thein et al 2021 , Estrada-Zuniga et al 2022 ). These findings suggest that the identification of gene fusion involving the RET gene should open the way to treatment with RET inhibitors in patients with metastatic or inoperable PGL.…”
Section: News From ‘Old’ Pgl Susceptibility Genesmentioning
confidence: 99%
“…RET rearrangements have been identified in sporadic cases of pheochromocytoma, without MEN 2 syndrome association. Interestingly, those include RET fusions with 3′ gene partners such as RET-SEPTIN9 [ 77 ] and RET-GRB2 [ 78 ]. In such cases, fusion events are associated with ligand-independent recruitment of canonical RET adaptor proteins, leading to constitutive activation of downstream signaling [ 78 ].…”
Section: Oncogenic Ret Alterationsmentioning
confidence: 99%