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

MR imaging phenotype correlates with extent of genome-wide copy number abundance in IDH mutant gliomas.
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DOI:
10.1007/s00234-019-02219-8
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发表时间:
2019-09
期刊:
影响因子:
2.8
通讯作者:
Snuderl M
Snuderl M
中科院分区:
医学3区
文献类型:
--
作者:
Wu CC;Jain R;Neto L;Patel S;Poisson LM;Serrano J;Ng V;Patel SH;Placantonakis DG;Zagzag D;Golfinos J;Chi AS;Snuderl M

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IDH突变型神经胶质瘤的生存率存在变异性,这取决于染色体事件。拷贝数变异(CNV)丰度与低级别和IDH突变型星形细胞瘤的生存相关。我们的目的是将IDH突变型星形细胞瘤中全基因组CNV丰度的程度与MRI特征相关联。回顾了18例WHO II-IV级IDH突变型星形细胞瘤的术前MRI和来自Illumina 850 k EPIC DNA甲基化阵列的CNV图。IDH突变型星形细胞瘤分为CNV稳定组(CNV-S)和CNV不稳定组(CNV-U),CNV稳定组具有</=3个染色体获得或丢失和缺乏局灶性基因扩增,CNV不稳定组具有>3个大染色体获得/丢失和/或局灶性扩增。评估MR特征、rCBV、CNV丰度和进展时间之间的相关性。使用DSC T2* 灌注分析获得肿瘤相对脑血容量估计值(rCBV)。有9例(50%)CNV-S和9例(50%)CNV-U IDH突变型星形细胞瘤。CNV-U肿瘤在FLAIR上显示出更大的平均肿瘤大小(P =.004)和最大直径(P = .004),并且还显示出比CNV-S肿瘤显著更高的中值rCBV(2.62 vs 0.78,P = .019)。CNV-U肿瘤倾向于具有较短的进展时间,尽管没有统计学显著性(P = .393)。CNV-U星形细胞瘤的体积/直径较大,rCBV较高,提示IDH突变型星形细胞瘤的侵袭性成像表型与不稳定和侵袭性基因型相关。
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 have been reported. Our purpose was to correlate the extent of genome-wide CNV abundance in IDH-mutant astrocytomas with MRI features. 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, rCBV, CNV abundance and time to progression were assessed. Tumor relative cerebral blood volume estimates (rCBV) were obtained using DSC T2* perfusion analysis. There were 9 (50%) CNV-S and 9 (50%) CNV-U IDH-mutant astrocytomas. CNV-U tumors showed larger mean tumor size (P = .004) and maximum diameter on FLAIR (P = .004), and also demonstrated significantly higher median rCBV than CNV-S tumors (2.62 vs 0.78, P = .019). CNV-U tumors tended to have shorter time to progression although without statistical significance (P = .393). Larger size/diameter and higher rCBV 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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