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MR imaging phenotype correlates with extent of genome-wide copy number abundance in IDH mutant gliomas

  • Diagnostic Neuroradiology
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Abstract

Purpose

There is variability in survival within IDH mutant gliomas determined by chromosomal events. Copy number variation (CNV) abundance associated with survival in low-grade and IDH mutant astrocytoma has been reported. Our purpose was to correlate the extent of genome-wide CNV abundance in IDH mutant astrocytomas with MRI features.

Methods

Presurgical MRI and CNV plots derived from Illumina 850k EPIC DNA methylation arrays of 18 cases of WHO grade II–IV IDH mutant astrocytomas were reviewed. IDH mutant astrocytomas were divided into CNV stable group (CNV-S) with ≤ 3 chromosomal gains or losses and lack of focal gene amplifications and CNV unstable group (CNV-U) with > 3 large chromosomal gains/losses and/or focal amplifications. The associations between MR features, relative cerebral blood volume (rCBV), CNV abundance, and time to progression were assessed. Tumor rCBV estimates were obtained using DSC T2* perfusion analysis.

Results

There were nine (50%) CNV-S and nine (50%) CNV-U IDH mutant astrocytomas. CNV-U tumors showed larger mean tumor size (P = 0.004) and maximum diameter on FLAIR (P = 0.004) and also demonstrated significantly higher median rCBV than CNV-S tumors (2.62 vs 0.78, P = 0.019). CNV-U tumors tended to have shorter time to progression although without statistical significance (P = 0.393).

Conclusions

Larger size/diameter and higher rCBVs were seen associated CNV-U astrocytomas, suggesting a correlation of aggressive imaging phenotype with unstable and aggressive genotype in IDH mutant astrocytomas.

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Funding

The molecular profiling part of this study was supported in part by a grant from the Friedberg Charitable Foundation (to MS).

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Authors and Affiliations

  1. Department of Radiology, Taipei Veterans General Hospital, Taipei, Republic of China

    Chih-Chun Wu

  2. School of Medicine, National Yang-Ming University, Taipei, Republic of China

    Chih-Chun Wu

  3. Department of Radiology, NYU School of Medicine, New York, NY, USA

    Rajan Jain, Lucidio Neto & Victor Ng

  4. Department of Neurosurgery, NYU School of Medicine, 660 First Avenue, 2nd Floor, New York, NY, 10016, USA

    Rajan Jain, Dimitris G. Placantonakis & John Golfinos

  5. Department of Pathology, NYU School of Medicine, New York, NY, USA

    Seema Patel, Jonathan Serrano, David Zagzag & Matija Snuderl

  6. Department of Public Health Sciences and Hermelin Brain Tumor Center, Henry Ford Hospital, Detroit, MI, USA

    Laila M. Poisson

  7. Department of Radiology and Medical Imaging, University of Virginia Health System, Charlottesville, VA, USA

    Sohil H. Patel

  8. Neuro-Oncology Program, Laura and Isaac Perlmutter Cancer Center, NYU School of Medicine and Langone Health, New York, NY, USA

    Andrew S. Chi

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  1. Chih-Chun Wu
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Correspondence to Rajan Jain.

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DGP had unrelated grants from NIH/NINDS R01 NS102665 and the NY State Stem Cell Program (paid to the institution).

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Wu, CC., Jain, R., Neto, L. et al. MR imaging phenotype correlates with extent of genome-wide copy number abundance in IDH mutant gliomas. Neuroradiology 61, 1023–1031 (2019). https://doi.org/10.1007/s00234-019-02219-8

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