Department of Pathology and Laboratory Medicine, Children's Healthcare of Atlanta and Emory University, 1001 Johnson Ferry Road, Atlanta, GA, 30342, USA.
Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
J Neurooncol. 2020 Nov;150(2):143-164. doi: 10.1007/s11060-020-03616-3. Epub 2020 Nov 19.
These recommendations apply to adult patients with newly diagnosed or suspected glioblastoma (GBM) QUESTION : For adult patients with newly diagnosed GBM does testing for Isocitrate Dehydrogenase 1 or 2 (IDH 1/2) mutations afford benefit beyond standard histopathology in providing accurate classification and outcome prognostication? Level III IDH 1/2 mutational status by immunohistochemistry (IHC) and/or sequencing is suggested for classification and prognostic information. Level III Non-canonical IDH 1/2 mutations are very rare in patients aged 55 or older and universal testing of variant mutations by sequence analysis is not suggested for this age range.
For adult patients with lower grade infiltrating astrocytomas (WHO grades II and III) can the IDH-wildtype status designation supersede histopathology to predict prognosis and biologic relevance to eventual behavior as a GBM? Level III The designation of infiltrating astrocytomas (WHO grades II and III) as IDH-wildtype is not suggested as sufficient for a higher grade designation alone. Level III It is suggested that IDH-wildtype WHO grades II and III astrocytomas be tested for molecular-genetic alterations typical of IDH-wildtype GBM such as EGFR amplification, gain of chromosome 7/loss of chromosome 10 and TERT-p mutation to substantiate prediction of behavior similar to IDH-wildtype glioblastoma. Level III It is suggested that a diagnosis of diffuse astrocytic glioma, IDH-wildtype, with molecular features of GBM, WHO grade IV be rendered for infiltrating astrocytomas that lack histologic criteria of GBM but harbors molecular-genetic alterations of IDH-wildtype glioblastoma.
For adult patients with newly diagnosed infiltrating glioma arising in the midline does testing for H3-K27M mutations provide information beyond that gained by histopathology for accurate classification and outcome prognostication? Level III It is suggested that infiltrating gliomas arising in midline anatomic locations be tested for the H3-K27M mutation as they tend to exhibit WHO grade IV behavior even if they lack histologic criteria for glioblastoma.
这些建议适用于新诊断或疑似胶质母细胞瘤（GBM）的成年患者。
对于新诊断为 GBM 的成年患者，检测异柠檬酸脱氢酶 1 或 2（IDH1/2）突变是否除了标准组织病理学检查外，还能提供更准确的分类和预后预测？建议使用免疫组织化学（IHC）和/或测序检测 IDH1/2 突变状态，以提供分类和预后信息。在年龄为 55 岁或以上的患者中，非典型 IDH1/2 突变非常罕见，不建议对该年龄组进行通过序列分析对变异突变进行普遍检测。
对于低级别浸润性星形细胞瘤（WHO 分级 II 和 III）的成年患者，IDH 野生型状态的指定是否可以替代组织病理学来预测预后和生物学相关性，最终表现为 GBM 的行为？建议不要将浸润性星形细胞瘤（WHO 分级 II 和 III）指定为 IDH 野生型，因为仅凭这一点不足以确定为更高级别。建议对 IDH 野生型 WHO 分级 II 和 III 星形细胞瘤进行分子遗传学改变的检测，这些改变通常与 IDH 野生型 GBM 相关，例如 EGFR 扩增、7 号染色体获得和 10 号染色体丢失以及 TERT-p 突变，以证实与 IDH 野生型胶质母细胞瘤相似的行为预测。建议对缺乏 GBM 组织学标准但具有 IDH 野生型胶质母细胞瘤分子遗传学改变的浸润性星形细胞瘤做出弥漫性星形细胞瘤、IDH 野生型、具有 GBM 分子特征的诊断，WHO 分级 IV。
对于新诊断的中线浸润性胶质瘤患者，检测 H3-K27M 突变是否提供了比组织病理学更准确的分类和预后预测信息？建议对中线解剖部位的浸润性胶质瘤进行 H3-K27M 突变检测，因为即使缺乏胶质母细胞瘤的组织学标准，它们也往往表现为 WHO 分级 IV 行为。
