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Cns Tumor With Bcor Internal Tandem Duplication Publisher Pubmed



Hazrati LN1, 2 ; Monajemzadeh M3 ; Habibi Z4 ; Moeini B5 ; Safavi M3
Authors
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Authors Affiliations
  1. 1. Department of Pathology, University of Toronto, University Health Network, Toronto, ON, Canada
  2. 2. The Hospital for Sick Children, Toronto, Canada
  3. 3. Pathology Department, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Neurosurgery Department, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Department of Radiation Oncology, MAHAK Pediatric Cancer Treatment and Research Center, Tehran, Iran

Source: Child's Nervous System Published:2023


Abstract

CNS tumor with BCOR internal tandem duplication is a recently proposed malignant tumor. The patient was an 18-month-old boy with torticollis and vomiting due to cerebellar hemispheric mass with extension to cerebellopontine angle and foramen magnum. Histopathologic examination of the tumor showed a moderately cellular tumor with microcystic formation, myxoid change, and atypical rosettes resembling Homer Wright rosettes. Illumina TruSight RNA Pan-Cancer NGS of the tumor genome revealed BCOR gene exon 15 internal tandem duplications. © 2022, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.