Central nervous system high grade neuroepithelial tumor with BCOR immunopositivity: Is there a molecular heterogeneity?
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ORIGINAL ARTICLE
Central nervous system high grade neuroepithelial tumor with BCOR immunopositivity: Is there a molecular heterogeneity? Shilpa Rao1 · Saikat Mitra1 · Harsha Sugur1 · Vikas Vazhayil2 · B. Ravi Mohan Rao3 · Santosh Kumar Annayappa4 · B. N. Nandeesh1 · T. C. Yasha1 · Vani Santosh1 Received: 2 May 2020 / Accepted: 17 September 2020 © The Japan Society of Brain Tumor Pathology 2020
Abstract Central nervous system high grade neuroepithelial tumor – BCOR altered is a newly defined entity which is characterised by internal tandem duplication (ITD) in exon 15 of BCOR. These tumors resemble high grade glioma histologically and exhibit BCOR immunopositivity. However, recently fusions of BCOR are also described in CNS lower grade gliomas, thus questioning the sensitivity and specificity of BCOR immunohistochemistry for identification of BCOR-ITD. We describe four cases of high grade neuroepithelial tumor with BCOR immunopositivity which were diagnosed over a period of one year at our institute. Amongst these, only one tumor revealed BCOR-ITD on sequencing. SATB2 immunopositivity which is a sensitive marker of BCOR-ITD, BCOR fusions and YWHAE fusions was noted in three out of four cases. Our study suggests that BCOR immunopositive CNS high grade tumors are molecularly heterogeneous and could harbour genetic alterations other than BCOR-ITD Keywords BCOR · SATB2 · Immunopositive · Neuroepithelial · BCOR-ITD
Introduction Central nervous system (CNS) high grade neuroepithelial tumors (HGNET) are heterogeneous and include a wide range of neoplasms such as high grade gliomas, ependymoma, medulloblastoma, embryonal tumour with multilayered rosettes (ETMR), atypical teratoid/rhabdoid tumour (ATRT), medulloepithelioma and embryonal tumor, not otherwise specified (NOS) which display an undifferentiated
cell morphology [1]. These individual tumours may have distinct morphology and immunohistochemical profile, with some being molecularly distinct as well. A study of these HGNET by Sturm et al. resulted in identification of a new entity—High grade neuroepithelial tumor with BCOR alteration (HGNET-BCOR), based on methylation classification [2]. These tumors were earlier diagnosed as CNS embryonal tumor, NOS or high grade neuroepithelial tumor
* Vani Santosh [email protected]
B. N. Nandeesh [email protected]
Shilpa Rao [email protected]
T. C. Yasha [email protected]
Saikat Mitra [email protected]
1
Harsha Sugur [email protected]
Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India
2
Vikas Vazhayil [email protected]
Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bangalore, India
3
Neurosurgery, Apollo Hospitals, Bangalore, India
4
Neurosurgery, Aster RV Hospital, Bangalore, India
B. Ravi Mohan Rao [email protected] Santosh Kumar Annayappa [email protected]
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Brain Tumor Pathology
with undifferentiated cells or CNS primitive neuroectodermal
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