Isoform switching as a mechanism of acquired resistance to mutant isocitrate dehydrogenase inhibition

James J. Harding, Maeve A. Lowery, Alan H. Shih, Juan M. Schvartzman, Shengqi Hou, Christopher Famulare, Minal Patel, Mikhail Roshal, Richard K. Do, Ahmet Zehir, Daoqi You, S. Duygu Selcuklu, Agnes Viale, Martin S. Tallman, David M. Hyman, Ed Reznik, Lydia W.S. Finley, Elli Papaemmanuil, Alessandra Tosolini, Mark G. FrattiniKyle J. Macbeth, Guowen Liu, Bin Fan, Sung Choe, Bin Wu, Yelena Y. Janjigian, Ingo K. Mellinghoff, Luis A. Diaz, Ross L. Levine, Ghassan K. Abou-Alfa, Eytan M. Stein, Andrew M. Intlekofer

Research output: Contribution to journalArticlepeer-review

173 Scopus citations

Abstract

Somatic mutations in cytosolic or mitochondrial isoforms of isocitrate dehydrogenase (IDH1 or IDH2, respectively) contribute to oncogenesis via production of the metabolite 2-hydroxyglutarate (2HG). Isoform-selective IDH inhibitors suppress 2HG production and induce clinical responses in patients with IDH1-and IDH2-mutant malignancies. Despite the promising activity of IDH inhibitors, the mechanisms that mediate resistance to IDH inhibition are poorly understood. Here, we describe four clinical cases that identify mutant IDH isoform switching, either from mutant IDH1 to mutant IDH2 or vice versa, as a mechanism of acquired clinical resistance to IDH inhibition in solid and liquid tumors. SIGNIFICANCE: IDH-mutant cancers can develop resistance to isoform-selective IDH inhibition by “isoform switching” from mutant IDH1 to mutant IDH2 or vice versa, thereby restoring 2HG production by the tumor. These findings underscore a role for continued 2HG production in tumor progression and suggest therapeutic strategies to prevent or overcome resistance.

Original languageEnglish
Pages (from-to)1540-1546
Number of pages7
JournalCancer Discovery
Volume8
Issue number12
DOIs
StatePublished - Dec 2018
Externally publishedYes

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