Chih-Chun Wu1,2, Rajan Jain3,4, Lucidio Neto5, Seema Patel6, Laila M Poisson7, Jonathan Serrano6, Victor Ng5, Sohil H Patel8, Dimitris G Placantonakis9, David Zagzag6, John Golfinos9, Andrew S Chi10, Matija Snuderl6. 1. Department of Radiology, Taipei Veterans General Hospital, Taipei, Republic of China. 2. School of Medicine, National Yang-Ming University, Taipei, Republic of China. 3. Department of Radiology, NYU School of Medicine, New York, NY, USA. rajan.jain@nyumc.org. 4. Department of Neurosurgery, NYU School of Medicine, 660 First Avenue, 2nd Floor, New York, NY, 10016, USA. rajan.jain@nyumc.org. 5. Department of Radiology, NYU School of Medicine, New York, NY, USA. 6. Department of Pathology, NYU School of Medicine, New York, NY, USA. 7. Department of Public Health Sciences and Hermelin Brain Tumor Center, Henry Ford Hospital, Detroit, MI, USA. 8. Department of Radiology and Medical Imaging, University of Virginia Health System, Charlottesville, VA, USA. 9. Department of Neurosurgery, NYU School of Medicine, 660 First Avenue, 2nd Floor, New York, NY, 10016, USA. 10. Neuro-Oncology Program, Laura and Isaac Perlmutter Cancer Center, NYU School of Medicine and Langone Health, New York, NY, USA.
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.
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. TumorrCBV 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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