Four molecular types of rare central nervous system (CNS) tumors have been recently identified by gene methylation profiling: CNS Neuroblastoma with FOXR2 activation (CNS NB-FOXR2), CNS Ewing Sarcoma Family Tumor with CIC alteration (CNS EFT-CIC), CNS high grade neuroepithelial tumor with MN1 alteration (CNS HGNET-MN1) and CNS high grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR). Although they are not represented in 2016 updated WHO classification of CNS tumors, their diagnostic recognition is important because of clinical consequences. We have introduced a diagnostic method based on transcription profiling of tumor specific signature genes from formalin-fixed, paraffin-embedded tumor blocks using NanoString nCounter Technology. Altogether, 14 out of 187 (7.4%) high grade pediatric brain tumors were diagnosed with either of four new CNS categories. Histopathological examination of the tumors confirmed, that they demonstrate a spectrum of morphology mimicking other CNS high grade tumors. However, they also exhibit some suggestive histopathological and immunohistochemical features that allow for a presumptive diagnosis prior to molecular assessment. Clinical characteristics of patients corroborated with the previous findings for CNS EFT-CIC, CNS NB-FOXR2 and CNS HGNET-MN1 patients, with a favorable survival rate for the latter two groups. Among six CNS HGNET-BCOR patients, three patients are long term survivors, suggesting possible heterogeneity within this molecular category of tumors. In summary, we confirmed the effectiveness of NanoString method using a single, multi-gene tumor specific signature and recommend this novel approach for identification of either one of the four newly described CNS tumor entities.

中文翻译：

---

使用肿瘤特异性特征基因对CNS NB-FOXR2，CNS EFT-CIC，CNS HGNET-MN1和CNS HGNET-BCOR小儿脑肿瘤进行分子鉴定。

最近，通过基因甲基化分析鉴定了四种分子类型的罕见中枢神经系统（CNS）肿瘤：具有FOXR2激活的CNS神经母细胞瘤（CNS NB-FOXR2），具有CIC改变的CNS尤因肉瘤家族肿瘤（CNS EFT-CIC），CNS高MN1改变的高级别神经上皮肿瘤（CNS HGNET-MN1）和BCOR改变的CNS高级别神经上皮肿瘤（CNS HGNET-BCOR）。尽管它们未在2016年更新的WHO中枢神经系统肿瘤分类中代表，但由于临床后果，它们的诊断认可很重要。我们已经引入了一种诊断方法，该方法基于使用NanoString nCounter技术从福尔马林固定，石蜡包埋的肿瘤块中对肿瘤特异性特征基因进行转录谱分析的方法。总共187分中的14分（7。4种新的中枢神经系统类别之一被诊断为4％）高等级的小儿脑肿瘤。肿瘤的组织病理学检查证实，它们表现出模仿其他中枢神经系统高级别肿瘤的形态学谱。但是，它们还表现出一些暗示的组织病理学和免疫组织化学特征，可以在进行分子评估之前进行推测性诊断。该患者的临床特征与中枢神经系统EFT-CIC，中枢神经系统NB-FOXR2和中枢神经系统HGNET-MN1患者的先前发现相符，后两组的生存率良好。在6名中枢神经系统HGNET-BCOR患者中，三名患者是长期幸存者，这表明该肿瘤分子类别可能存在异质性。总而言之，我们使用了一个单一的，