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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

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.