Central nervous system high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)—case-based reviews

Abstract

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.

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Correspondence to Luca Massimi.

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De Lima, L., Sürme, M.B., Gessi, M. et al. Central nervous system high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)—case-based reviews. Childs Nerv Syst (2020). https://doi.org/10.1007/s00381-020-04692-6

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Keywords

  • HGNET
  • BCOR
  • Brain tumor
  • Methylation profiling