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- Title
CNS tumor with BCOR internal tandem duplication.
- Authors
Hazrati, Lili-Naz; Monajemzadeh, Maryam; Habibi, Zohreh; Moeini, Bahar; Safavi, Moeinadin
- 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.
- Subjects
CEREBELLOPONTILE angle; TUMORS; CHROMOSOME duplication; TORTICOLLIS
- Publication
Child's Nervous System, 2023, Vol 39, Issue 2, p321
- ISSN
0256-7040
- Publication type
Case Study
- DOI
10.1007/s00381-022-05796-x