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

Document Type

Article

Publication Date

5-27-2019

Publication Title

Neuroradiology

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.

Medical Subject Headings

Adult; Aged; Aged; 80 and over; Astrocytoma/diagnostic imaging/genetics/mortality; Brain Neoplasms/diagnostic imaging/genetics/mortality; DNA Copy Number Variations/genetics; Female; Humans; Isocitrate Dehydrogenase/genetics; Magnetic Resonance Imaging; Male; Middle Aged; Phenotype; Retrospective Studies; Young Adult; Genomics; Glioma; Imaging; Radiogenomics

PubMed ID

31134296

ePublication

ePub ahead of print

Volume

61

Issue

9

First Page

1023

Last Page

1031

Share

COinS