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T2-FLAIR Mismatch Sign Predicts DNA Methylation Subclass and CDKN2A/B Status in IDH-Mutant Astrocytomas
Matthew D Lee1, Rajan Jain1,2, Kristyn Galbraith3
1Department of Radiology, NYU Grossman School of Medicine, New York, New York.
Summary
The T2-FLAIR mismatch sign on MRI is highly specific for identifying low-grade IDH-mutant astrocytomas and intact CDKN2A/B status. This imaging marker aids in classifying these brain tumors without invasive procedures.
Area of Science:
- Neuro-oncology
- Radiology
- Molecular Pathology
Background:
- Isocitrate dehydrogenase (IDH)-mutant astrocytomas are stratified by DNA methylation profiling into low- and high-grade groups.
- Accurate grading is crucial for treatment and prognosis, with molecular biomarkers like CDKN2A/B homozygous deletion defining grade 4 status (WHO 2021).
Purpose of the Study:
- To evaluate the diagnostic utility of the T2-fluid-attenuated inversion recovery (T2-FLAIR) mismatch sign in predicting DNA methylation grade.
- To assess the association of the T2-FLAIR mismatch sign with CDKN2A/B homozygous deletion status in IDH-mutant astrocytomas.
Main Methods:
- Retrospective analysis of preoperative MRI scans from 71 IDH-mutant astrocytomas.
- Independent evaluation of the T2-FLAIR mismatch sign by two radiologists.
- Correlation of T2-FLAIR mismatch with DNA methylation grade, CDKN2A/B status, copy number variation, and survival outcomes.
Main Results:
- The T2-FLAIR mismatch sign was present in 46.7% of methylation low-grade cases versus 3.9% of high-grade cases (P < 0.001), demonstrating 96.2% specificity for low methylation grade.
- The sign was significantly associated with intact CDKN2A/B status (P = 0.028) with 87.5% specificity.
- Retained CDKN2A/B status was a significant predictor of progression-free survival (P = 0.01).
Conclusions:
- The T2-FLAIR mismatch sign is a highly specific imaging biomarker for identifying low methylation grade IDH-mutant astrocytomas.
- This non-invasive sign is also strongly associated with intact CDKN2A/B status, a key molecular marker for high-grade disease.
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