Introduction

High-grade neuroepithelial tumor with BCOR alteration (HGNET BCOR) has been recently classified as a new category of tumors among those previously known as PNET. They are molecularly characterized by the mutation of the BCOR gene, a corepressor of BCL6 a gene (which has an important role in immune responses). Only case reports and very small series have been published so far; therefore, their behavior and management are still under investigation. The goal of the present case-based review is to provide a summary about the state of the art on these tumors.

Methods and results

The pertinent review has been reviewed, and an exemplary case has been reported (15-month-old boy with large HGNET BCOR of the left cerebellopontine angle). So far, 24 cases have been described, with a 5.5 mean age at diagnosis and a 1.4 male/female ratio. The cerebellar hemisphere is the more frequently involved region. No metastases are usually detected at diagnosis, though they are common in case of tumor recurrence. There are no specific radiological or pathological features to differentiate HGNET BCOR from other brain malignant neuroepithelial tumors so that the differential diagnosis is obtained by DNA methylation profiling. The management possibly relies on surgery and (high dose) chemotherapy and radiotherapy but without a dedicated protocol yet. The overall survival after 48-month follow-up is 50%. A gross total resection, which is mandatory for a better outcome, is achievable in the majority of cases.

Conclusions

The clinical research on HGNET BCOR is just at the beginning. New targets and wide-ranging clinical trials are needed to get an optimal management.

中文翻译：

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中枢神经系统上皮性上皮性肿瘤伴BCOR改变（CNS HGNET-BCOR）基于病例的评论。

介绍

具有BCOR改变的高级神经上皮肿瘤（HGNET BCOR）最近被归类为先前称为PNET的一种新的肿瘤。它们的分子学特征是BCOR基因的突变，BCOR基因是BCL6 a基因的核心抑制剂（在免疫反应中起重要作用）。迄今为止，仅发表了病例报告和非常小的系列文章。因此，他们的行为和管理仍在调查中。本基于病例的综述的目的是提供有关这些肿瘤的最新技术的概述。

方法与结果

已经审查了相关的综述，并报告了一个示例性病例（15个月大的男孩，其小桥脑角为HGNET BCOR大）。到目前为止，已经描述了24例，诊断时平均年龄为5.5岁，男女比例为1.4。小脑半球是较常见的区域。尽管在肿瘤复发的情况下很常见，但通常在诊断时未检测到转移。没有将HGNET BCOR与其他脑恶性神经上皮性肿瘤区分开的特定放射学或病理学特征，因此可以通过DNA甲基化谱分析来进行鉴别诊断。管理可能依赖于手术以及（高剂量）化学疗法和放射疗法，但尚无专门的方案。48个月随访后的总生存率为50％。总切除

结论

HGNET BCOR的临床研究才刚刚开始。需要新的目标和广泛的临床试验来获得最佳管理。