The BRAF V600E mutation is an important oncological target in certain central nervous system (CNS) tumors, for which a possible application of BRAF-targeted therapy grows continuously. In the present study, we aim to determine the prevalence of BRAF V600E mutations in a series of ganglioglioma (GG) and pilocytic astrocytoma (PA) cases. Simultaneously, we decided to verify whether the combination of fully automated tests—BRAF-VE1 immunohistochemistry (IHC) and Idylla BRAF mutation assay—may be useful to accurately predict it in the case of specified CNS tumors. The study included 49 formalin-fixed, paraffin-embedded tissues, of which 15 were GG and 34 PA. Immunohistochemistry with anti-BRAF V600E (VE1) antibody was performed on tissue sections using the VentanaBenchMark ULTRA platform. All positive or equivocal cases on IHC and selected negative ones were further assessed using the Idylla BRAF mutation assay coupled with the Idylla platform. The BRAF-VE1 IHC was positive in 6 (6/49; 12.3%) and negative in 39 samples (39/49; 79.6%). The interpretation of immunostaining results was complicated in 4 cases, of which 1 tested positive for the Idylla BRAF mutation assay. Therefore, the overall positivity rate was 14.3%. This included 2 cases of GG and 5 cases of PA. Our study found that BRAF V600E mutations are moderately frequent in PA and GG and that for these tumor entities, IHC VE1 is suitable for screening purposes, but all negative, equivocal, and weak positive cases should be further tested with molecular biology techniques, of which the Idylla system seems to be a promising tool.

中文翻译：

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通过免疫组织化学和基于实时PCR的Idylla试验检测神经节胶质瘤和上皮性星形细胞瘤中BRAF V600E突变。

在某些中枢神经系统（CNS）肿瘤中，BRAF V600E突变是重要的肿瘤靶标，因此，针对BRAF的疗法的应用可能会不断增长。在本研究中，我们旨在确定一系列神经节胶质瘤（GG）和毛细胞星形细胞瘤（PA）病例中BRAF V600E突变的患病率。同时，我们决定验证在特定的CNS肿瘤情况下，全自动测试（BRAF-VE1免疫组织化学（IHC）和Idylla BRAF突变检测）的组合是否可用于准确预测。该研究包括49个福尔马林固定，石蜡包埋的组织，其中15个为GG，34个为PA。使用VentanaBenchMark ULTRA平台在组织切片上进行了抗BRAF V600E（VE1）抗体的免疫组织化学。使用Idylla BRAF突变检测结合Idylla平台，进一步评估了IHC上所有阳性或模棱两可的病例以及选定的阴性病例。BRAF-VE1 IHC在6个样本中为阳性（6/49； 12.3％），在39个样本中为阴性（39/49； 79.6％）。免疫染色结果的解释很复杂，其中4例，其中1例Idylla BRAF突变检测呈阳性。因此，总阳性率为14.3％。其中包括2例GG和5例PA。我们的研究发现，BRAF V600E突变在PA和GG中中等偏高，对于这些肿瘤实体，IHC VE1适合用于筛查目的，但所有阴性，模棱两可和弱阳性的病例都应使用分子生物学技术进行进一步测试，其中Idylla系统似乎是一个很有前途的工具。