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High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication-a comprehensive clinical, radiographic, pathologic, and genomic analysis.

  • Ferris, Sean P1
  • Velazquez Vega, Jose2
  • Aboian, Mariam3
  • Lee, Julieann C1
  • Van Ziffle, Jessica1, 4
  • Onodera, Courtney1, 4
  • Grenert, James P1, 4
  • Saunders, Tara1
  • Chen, Yunn-Yi1
  • Banerjee, Anu5
  • Kline, Cassie N5, 6
  • Gupta, Nalin7
  • Raffel, Corey7
  • Samuel, David8
  • Ruiz-Diaz, Irune9
  • Magaki, Shino10
  • Wilson, Dianne11
  • Neltner, Janna11
  • Al-Hajri, Zahra12
  • Phillips, Joanna J1, 7
  • And 7 more
  • 1 Department of Pathology, University of California, San Francisco, CA.
  • 2 Department of Pathology, Children's Healthcare of Atlanta, Atlanta, GA.
  • 3 Department of Radiology and Biomedical Imaging, University of California, San Francisco, CA.
  • 4 Clinical Cancer Genomics Laboratory, University of California, San Francisco, CA.
  • 5 Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, CA.
  • 6 Department of Neurology, University of California, San Francisco, CA.
  • 7 Department of Neurological Surgery, University of California, San Francisco, CA.
  • 8 Department of Hematology-Oncology, Valley Children's Hospital, Madera, CA.
  • 9 Department of Pathology, Hospital Universitario Donostia, Gipuzkoa, Spain. , (Spain)
  • 10 Department of Pathology and Human Anatomy, Loma Linda University Medical Center, Loma Linda, CA.
  • 11 Department of Pathology and Laboratory Medicine, University of Kentucky, Lexington, KY.
  • 12 Department of Histopathology, Khoula Hospital, Muscat, Sultanate of Oman. , (Oman)
Published Article
Brain Pathology
Wiley (Blackwell Publishing)
Publication Date
Jan 01, 2020
DOI: 10.1111/bpa.12747
PMID: 31104347


High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication (HGNET BCOR ex15 ITD) is a recently proposed tumor entity of the central nervous system (CNS) with a distinct methylation profile and characteristic genetic alteration. The complete spectrum of histologic features, accompanying genetic alterations, clinical outcomes, and optimal treatment for this new tumor entity are largely unknown. Here, we performed a comprehensive assessment of 10 new cases of HGNET BCOR ex15 ITD. The tumors mostly occurred in young children and were located in the cerebral or cerebellar hemispheres. On imaging all tumors were large, well-circumscribed, heterogeneous masses with variable enhancement and reduced diffusion. They were histologically characterized by predominantly solid growth, glioma-like fibrillarity, perivascular pseudorosettes, and palisading necrosis, but absence of microvascular proliferation. They demonstrated sparse to absent GFAP expression, no synaptophysin expression, variable OLIG2 and NeuN positivity, and diffuse strong BCOR nuclear positivity. While BCOR exon 15 internal tandem duplication was the solitary pathogenic alteration identified in six cases, four cases contained additional alterations including CDKN2A/B homozygous deletion, TERT amplification or promoter hotspot mutation, and damaging mutations in TP53, BCORL1, EP300, SMARCA2 and STAG2. While the limited clinical follow-up in prior reports had indicated a uniformly dismal prognosis for this tumor entity, this cohort includes multiple long-term survivors. Our study further supports inclusion of HGNET BCOR ex15 ITD as a distinct CNS tumor entity and expands the known clinicopathologic, radiographic, and genetic features. © 2019 International Society of Neuropathology.

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