Department of Neurosurgery, Sahlgrenska University Hospital, Gothenburg, Sweden.
Department of Clinical Neuroscience, Institute of Neuroscience and Physiology, University of Gothenburg, Sahlgrenska Academy, Gothenburg, Sweden.
BMC Cancer. 2020 May 20;20(1):450. doi: 10.1186/s12885-020-06951-w.
The T2-FLAIR mismatch sign is an imaging finding highly suggestive of isocitrate dehydrogenase mutated (IDH-mut) 1p19q non-codeleted (non-codel) gliomas (astrocytomas). In previous studies, it has shown excellent specificity but limited sensitivity for IDH-mut astrocytomas. Whether the mismatch sign is a marker of a clinically relevant subtype of IDH-mut astrocytomas is unknown.
We included histopathologically verified supratentorial lower-grade gliomas (LGG) WHO grade II-III retrospectively during the period 2010-2016. In the period 2017-2018, patients with suspected LGG radiologically were prospectively included, and in this cohort other diagnoses than glioma could occur. Clinical, radiological and molecular data were collected. For clinical evaluation we included all patients with IDH-mut astrocytomas. In the 2010-2016 cohort DNA methylation analysis with Infinium MethylationEPIC BeadChip (Illumina) was performed for patients with an IDH-mut astrocytoma with available tissue. We aimed to examine the association of the T2-FLAIR mismatch sign with clinical factors and outcomes. Additionally, we evaluated the diagnostic reliability of the mismatch sign and its relation to methylation profiles.
Out of 215 patients with LGG, 135 had known IDH-mutation and 1p19q codeletion status. Fifty patients had an IDH-mut astrocytoma and 12 of these (24.0%) showed a mismatch sign. The sensitivity and specificity of the mismatch sign for IDH-mut detection were 26.4 and 97.6%, respectively. There were no differences between patients with an IDH-mut astrocytoma with or without mismatch sign when grouped according to T2-FLAIR mismatch sign with respect to baseline characteristics, clinical outcomes and methylation profiles. The overall interrater agreement between neuroradiologist and clinical neurosurgeons for the T2-FLAIR mismatch sign was significant when all 215 MRI examination assessed (κ = 0.77, p < 0.001, N = 215).
The T2-FLAIR mismatch sign in patients with an IDH-mut astrocytoma is not associated with clinical presentation or outcome. It seems unlikely that the IDH-mut astrocytomas with mismatch sign represent a specific subentity. Finally, we have validated that the T2-FLAIR mismatch sign is a reliable and specific marker of IDH-mut astrocytomas.
T2-FLAIR 不匹配征象是一种影像学表现,高度提示存在异柠檬酸脱氢酶突变(IDH-mut)1p19q 非编码缺失(非 codel)胶质瘤(星形细胞瘤)。在以前的研究中,它对 IDH-mut 星形细胞瘤具有出色的特异性,但敏感性有限。T2-FLAIR 不匹配征象是否是 IDH-mut 星形细胞瘤的一种具有临床意义的亚型标志物尚不清楚。
我们回顾性纳入了 2010 年至 2016 年期间经组织病理学证实的幕上低级别胶质瘤(LGG)WHO 分级 II-III 级患者。在 2017 年至 2018 年期间,对疑似 LGG 的患者进行前瞻性纳入,在此队列中可能发生除胶质瘤以外的其他诊断。收集临床、影像学和分子数据。为了临床评估,我们纳入了所有 IDH-mut 星形细胞瘤患者。在 2010 年至 2016 年的队列中,对有 IDH-mut 星形细胞瘤且有组织样本的患者进行了 Infinium MethylationEPIC BeadChip(Illumina)的 DNA 甲基化分析。我们旨在研究 T2-FLAIR 不匹配征象与临床因素和结局的关系。此外,我们评估了不匹配征象的诊断可靠性及其与甲基化谱的关系。
在 215 名 LGG 患者中,有 135 名患者已知 IDH 突变和 1p19q 编码缺失状态。50 名患者患有 IDH-mut 星形细胞瘤,其中 12 名(24.0%)出现了不匹配征象。不匹配征象检测 IDH-mut 的敏感性和特异性分别为 26.4%和 97.6%。根据 T2-FLAIR 不匹配征象将 IDH-mut 星形细胞瘤患者分为两组时,无不匹配征象的患者与有不匹配征象的患者在基线特征、临床结局和甲基化谱方面没有差异。当对所有 215 例 MRI 检查进行评估时,神经放射科医生和临床神经外科医生之间对 T2-FLAIR 不匹配征象的总体观察者间一致性显著(κ=0.77,p<0.001,N=215)。
IDH-mut 星形细胞瘤患者的 T2-FLAIR 不匹配征象与临床表现或结局无关。似乎 IDH-mut 星形细胞瘤伴有不匹配征象的患者不太可能代表一个特定的亚群。最后,我们验证了 T2-FLAIR 不匹配征象是 IDH-mut 星形细胞瘤的一种可靠且特异的标志物。