CNS tumor with BCOR internal tandem duplication

Lili-Naz Hazrati; Maryam Monajemzadeh; Zohreh Habibi; Bahar Moeini; Moeinadin Safavi

doi:10.1007/s00381-022-05796-x

CNS tumor with BCOR internal tandem duplication

Childs Nerv Syst. 2023 Feb;39(2):321-324. doi: 10.1007/s00381-022-05796-x. Epub 2022 Dec 17.

Authors

Lili-Naz Hazrati^{1

2}, Maryam Monajemzadeh³, Zohreh Habibi⁴, Bahar Moeini⁵, Moeinadin Safavi⁶

Affiliations

¹ Department of Pathology, University of Toronto, University Health Network, Toronto, ON, Canada.
² The Hospital for Sick Children, Toronto, Canada.
³ Pathology Department, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
⁴ Neurosurgery Department, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
⁵ Department of Radiation Oncology, MAHAK Pediatric Cancer Treatment and Research Center, Tehran, Iran.
⁶ Pathology Department, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran. [email protected].

PMID: 36527465
DOI: 10.1007/s00381-022-05796-x

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.

Publication types

Case Reports
Letter

MeSH terms

Biomarkers, Tumor / genetics
Central Nervous System Neoplasms* / genetics
Cysts*
Exons
Humans
Infant
Male
Proto-Oncogene Proteins / genetics
Repressor Proteins / genetics

Substances

BCOR protein, human
Biomarkers, Tumor
Proto-Oncogene Proteins
Repressor Proteins