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Noninvasive Identification of Isocitrate Dehydrogenase 1/2 Mutation in Brainstem Gliomas
Marina Kushnirsky1, Andrew L Lin1,2,3, Tejus Bale3,4
1Department of Neurology, Memorial Sloan Kettering Cancer Center, New York, NY.
JCO Precision Oncology
|February 25, 2026
Summary
Magnetic resonance spectroscopy (MRS) is more sensitive than cerebrospinal fluid cell-free DNA (CSF cfDNA) sequencing for detecting isocitrate dehydrogenase 1/2 (IDH1/2) mutations in brainstem gliomas before treatment.
Area of Science:
- Neuro-oncology
- Molecular diagnostics
- Radiology
Background:
- Brainstem gliomas with isocitrate dehydrogenase 1/2 (IDH1/2) mutations have distinct prognostic and therapeutic implications.
- Identifying IDH1/2 mutations is crucial for managing these tumors.
Purpose of the Study:
- To evaluate the radiographic features of IDH-mutant brainstem gliomas.
- To assess the sensitivity of magnetic resonance spectroscopy (MRS) and cerebrospinal fluid cell-free DNA (CSF cfDNA) sequencing in detecting IDH1/2 mutations.
Main Methods:
- Retrospective review of IDH-mutant brainstem gliomas.
- IDH1/2 mutation confirmation via biopsy, CSF cfDNA sequencing, or 2-hydroxyglutarate (2HG) detection by MRS.
- Analysis of radiographic features including T2-FLAIR mismatch and enhancement patterns.
Main Results:
- Twenty-one IDH-mutant brainstem gliomas were identified, predominantly involving the pons.
- MRS detected 2HG in 64.3% of patients, increasing to 85.7% before treatment.
- CSF cfDNA sequencing identified IDH1/2 mutations in 4 of 7 patients.
Conclusions:
- IDH-mutant brainstem gliomas exhibit a characteristic clinical and radiographic profile.
- MRS demonstrates higher sensitivity than CSF cfDNA sequencing for noninvasive IDH1/2 mutation detection prior to radiotherapy.
