High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication-a comprehensive clinical, radiographic, pathologic, and genomic analysis
| Autor: | Zahra Al‐Hajri, Tara A. Saunders, Matthew Schniederjan, Andrew W. Bollen, Cassie Kline, Soonmee Cha, Dianne Wilson, Sean P. Ferris, Joanna J. Phillips, Irune Ruiz‐Diaz, Mariam Aboian, Jessica Van Ziffle, Corey Raffel, José E. Velázquez Vega, Tarik Tihan, Janna H. Neltner, Melike Pekmezci, Julieann C. Lee, Anu Banerjee, David A. Solomon, David Samuel, Nalin Gupta, Shino Magaki, Arie Perry, Courtney Onodera, Yunn-Yi Chen, James P. Grenert |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Male Pathology Kaplan-Meier Estimate Central Nervous System Neoplasms Exon 0302 clinical medicine CDKN2A Neoplasms Child Telomerase Cancer screening and diagnosis Tumor biology Brain Neoplasms General Neuroscience molecular neurooncology Methylation Exons Genomics Glioma Neoplasms Neuroepithelial Neuroepithelial cell Detection HGNET Child Preschool Female brain tumor Biotechnology 4.2 Evaluation of markers and technologies medicine.medical_specialty Adolescent Clinical Sciences Brain tumor Neuroepithelial molecular neuro-oncology Article Pathology and Forensic Medicine OLIG2 BCOR exon 15 internal tandem duplication 03 medical and health sciences Rare Diseases Proto-Oncogene Proteins Genetics medicine Biomarkers Tumor Humans Preschool EP300 Cyclin-Dependent Kinase Inhibitor p16 Neurology & Neurosurgery high-grade neuroepithelial tumor Neurosciences Infant Oligodendrocyte Transcription Factor 2 medicine.disease Brain Disorders Brain Cancer molecular neuropathology Repressor Proteins Orphan Drug 030104 developmental biology Synaptophysin biology.protein Neurology (clinical) E1A-Associated p300 Protein Biomarkers 030217 neurology & neurosurgery Transcription Factors |
| Zdroj: | Brain Pathol Brain pathology (Zurich, Switzerland), vol 30, iss 1 |
| ISSN: | 1750-3639 |
| Popis: | 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 ten 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. |
| Databáze: | OpenAIRE |
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