Mandelberg Nataniel, Hodges Tiffany R, Wang Tony J C, McGranahan Tresa, Olson Jeffrey J, Orringer Daniel A
Department of Neurosurgery, NYU Langone Health and NYU Grossman School of Medicine, 530 1st Avenue, Skirball Suite 8R, New York, NY, 10016, USA.
Brain and Spine Tumor Center, Laura and Isaac Perlmutter Cancer Center, New York, NY, USA.
J Neurooncol. 2025 Mar;172(1):195-218. doi: 10.1007/s11060-024-04898-7. Epub 2025 Jan 2.
QUESTIONS AND RECOMMENDATIONS FROM THE PRIOR VERSION OF THESE GUIDELINES WITHOUT CHANGE: TARGET POPULATION: Adult patients (age ≥ 18 years) who have suspected low-grade diffuse glioma.
What are the optimal neuropathological techniques to diagnose low-grade diffuse glioma in the adult?
Level I Histopathological analysis of a representative surgical sample of the lesion should be used to provide the diagnosis of low-grade diffuse glioma. Level III Both frozen section and cytopathologic/smear evaluation should be used to aid the intra-operative assessment of low-grade diffuse glioma diagnosis. A resection specimen is preferred over a biopsy specimen, to minimize the potential for sampling error issues.
Patients with histologically-proven WHO grade II diffuse glioma.
In adult patients (age ≥ 18 years) with histologically-proven WHO grade II diffuse glioma, is testing for IDH1 mutation (R132H and/or others) warranted? If so, is there a preferred method?
Level II IDH gene mutation assessment, via IDH1 R132H antibody and/or IDH1/2 mutation hotspot sequencing, is highly-specific for low-grade diffuse glioma, and is recommended as an additional test for classification and prognosis.
Patients with histologically-proven WHO grade II diffuse glioma.
In adult patients (age ≥ 18 years) with histologically-proven WHO grade II diffuse glioma, is testing for 1p/19q loss warranted? If so, is there a preferred method?
Level III 1p/19q loss-of-heterozygosity testing, by FISH, array-CGH or PCR, is recommended as an additional test in oligodendroglial cases for prognosis and potential treatment planning.
Patients with histologically proven WHO grade II diffuse glioma.
In adult patients (age > 18 years) with histologically-proven WHO grade II diffuse glioma, is methyl-guanine methyl-transferase (MGMT) promoter methylation testing warranted? If so, is there a preferred method?
There is insufficient evidence to recommend MGMT promoter methylation testing as a routine for low-grade diffuse gliomas. It is recommended that patients be enrolled in properly designed clinical trials to assess the value of this and related markers for this target population.
Patients with histologically-proven WHO grade II diffuse glioma.
In adult patients (age ≥ 18 years) with histologically proven WHO grade II diffuse glioma, is Ki-67/MIB1 immunohistochemistry warranted? If so, is there a preferred method to quantitate results?
Level III Ki67/MIB1 immunohistochemistry is recommended as an option for prognostic assessment.
TARGET POPULATION: Adult patients (age ≥ 18 years) who have suspected WHO grade II diffuse glioma.
Is testing for ATRX mutations helpful for predicting survival and making treatment recommendations?
There is insufficient evidence to recommend ATRX mutation testing as a means of predicting survival or making treatment recommendations.
Adult patients (age ≥ 18 years) who have suspected WHO grade II diffuse glioma.
Does the addition of intraoperative optical histologic methods provide accuracy beyond the use of conventional histologic methods in diagnosis and management?
There is insufficient evidence at this time to suggest that intraoperative optical histologic methods offer increased diagnostic accuracy when compared to conventional techniques.
这些指南先前版本中的问题及建议未作更改:
疑似低度弥漫性胶质瘤的成年患者(年龄≥18岁)。
诊断成年患者低度弥漫性胶质瘤的最佳神经病理学技术是什么?
一级 应使用病变代表性手术样本的组织病理学分析来诊断低度弥漫性胶质瘤。三级 应同时使用冰冻切片和细胞病理学/涂片评估来辅助术中对低度弥漫性胶质瘤诊断的评估。切除标本优于活检标本,以尽量减少抽样误差问题的可能性。
组织学确诊为世界卫生组织二级弥漫性胶质瘤的患者。
在组织学确诊为世界卫生组织二级弥漫性胶质瘤的成年患者(年龄≥18岁)中,是否需要检测异柠檬酸脱氢酶1(IDH1)突变(R132H和/或其他)?如果是,是否有首选方法?
二级 通过IDH1 R132H抗体和/或IDH1/2突变热点测序进行IDH基因突变评估,对低度弥漫性胶质瘤具有高度特异性,建议作为分类和预后的附加检测。
组织学确诊为世界卫生组织二级弥漫性胶质瘤的患者。
在组织学确诊为世界卫生组织二级弥漫性胶质瘤的成年患者(年龄≥18岁)中,是否需要检测1p/19q缺失?如果是,是否有首选方法?
三级 对于少突胶质细胞瘤病例,建议通过荧光原位杂交(FISH)、比较基因组杂交芯片(array-CGH)或聚合酶链反应(PCR)进行1p/19q杂合性缺失检测,作为预后和潜在治疗规划的附加检测。
组织学确诊为世界卫生组织二级弥漫性胶质瘤的患者。
在组织学确诊为世界卫生组织二级弥漫性胶质瘤的成年患者(年龄>18岁)中,是否需要进行甲基鸟嘌呤甲基转移酶(MGMT)启动子甲基化检测?如果是,是否有首选方法?
目前没有足够证据推荐将MGMT启动子甲基化检测作为低度弥漫性胶质瘤的常规检测。建议患者参加设计合理的临床试验,以评估该检测及相关标志物对该目标人群的价值。
组织学确诊为世界卫生组织二级弥漫性胶质瘤的患者。
在组织学确诊为世界卫生组织二级弥漫性胶质瘤的成年患者(年龄≥18岁)中,是否需要进行Ki-67/MIB1免疫组织化学检测?如果是,是否有定量结果的首选方法?
三级 建议将Ki67/MIB1免疫组织化学作为预后评估的一种选择。
疑似世界卫生组织二级弥漫性胶质瘤的成年患者(年龄≥18岁)。
检测ATRX突变对预测生存和提出治疗建议是否有帮助?
目前没有足够证据推荐将ATRX突变检测作为预测生存或提出治疗建议的手段。
疑似世界卫生组织二级弥漫性胶质瘤的成年患者(年龄≥18岁)。
与传统组织学方法相比,术中光学组织学方法在诊断和管理中是否能提供更高的准确性?
目前没有足够证据表明与传统技术相比,术中光学组织学方法能提高诊断准确性。