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Central nervous system high grade neuroepithelial tumor with BCOR immunopositivity: Is there a molecular heterogeneity?

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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

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References

  1. Ellison DW, Eberhart CG, Peitsch T, Pfister S (2016) Embryonal tumors. In: Louis D, Ohgaki H, Weistler O, Cavenee W (ed.,) WHO Classification of Tumours of the Central Nervous System, Revised 4th ed. France: IARC.183–212

  2. Sturm D, Orr BA, Toprak UH et al (2016) New brain tumor entities emerge from molecular classification of CNS-PNETs. Cell 164:1060–1072

    Article  CAS  Google Scholar 

  3. Yoshida Y, Nobusawa S, Nakata S et al (2018) CNS high-grade neuroepithelial tumor with BCOR internal tandem duplication: a comparison with its counterparts in the kidney and soft tissue. Brain Pathol 28:710–720

    Article  CAS  Google Scholar 

  4. Kao Y-C, Sung Y-S, Zhang L et al (2016) BCOR overexpression is a highly sensitive marker in round cell sarcomas with BCOR genetic abnormalities. Am J Surg Pathol 40:1670–1678

    Article  Google Scholar 

  5. Appay R, Macagno N, Padovani L et al (2017) HGNET-BCOR tumors of the cerebellum: clinicopathologic and molecular characterization of 3 cases. Am J Surg Pathol 41:1254–1260

    Article  Google Scholar 

  6. Paret C, Theruvath J, Russo A et al (2016) Activation of the basal cell carcinoma pathway in a patient with CNS HGNET-BCOR diagnosis: consequences for personalized targeted therapy. Oncotarget 7:83378–83391

    Article  Google Scholar 

  7. Haberler C, Reiniger L, Rajnai H et al (2019) Case of the month 1–2019: CNS high-grade neuroepithelial tumor with BCOR alteration. Clin Neuropathol 38:4–7

    Article  Google Scholar 

  8. Ferris SP, Velazquez Vega J, Aboian M et al (2020) High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication-a comprehensive clinical, radiographic, pathologic, and genomic analysis. Brain Pathol 30:46–62

    Article  CAS  Google Scholar 

  9. Torre M, Meredith DM, Dubuc A et al (2019) Recurrent EP300-BCOR fusions in pediatric gliomas with distinct clinicopathologic features. J Neuropathol Exp Neurol 78:305–314

    Article  CAS  Google Scholar 

  10. Dn L, Wesseling P, Aldape K et al (2020) cIMPACT-NOW update 6: new entity and diagnostic principle recommendations of the cIMPACT-Utrecht meeting on future CNS tumor classification and grading. Brain Pathol 30:1–13

    Article  Google Scholar 

  11. Zhang J, Benavente CA, McEvoy J et al (2012) A Novel Retinoblastoma therapy from genomic and epigenetic analyses. Nature 481:329–334

    Article  CAS  Google Scholar 

  12. Pugh TJ, Weeraratne SD, Archer TC et al (2012) Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. Nature 488:106–110

    Article  CAS  Google Scholar 

  13. Roy A, Kumar V, Zorman B et al (2015) Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Nat Commun 6:8891

    Article  CAS  Google Scholar 

  14. Argani P, Kao Y, Zhang L et al (2019) BCOR overexpression in renal malignant solitary fibrous tumors: a close mimic of clear cell sarcoma of kidney. Am J Surg Pathol 43:773–782

    Article  Google Scholar 

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Acknowledgement

The authors wish to acknowledge MR Chandrashekar and Manjunath K for their technical assistance. We thank Dr. Premalata CS from Kidwai Memorial Institute of Oncology, Bangalore, for helping us with SATB2 immunostaining.

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Authors and Affiliations

  1. Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India

    Shilpa Rao, Saikat Mitra, Harsha Sugur, B. N. Nandeesh, T. C. Yasha & Vani Santosh

  2. Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bangalore, India

    Vikas Vazhayil

  3. Neurosurgery, Apollo Hospitals, Bangalore, India

    B. Ravi Mohan Rao

  4. Neurosurgery, Aster RV Hospital, Bangalore, India

    Santosh Kumar Annayappa

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  1. Shilpa Rao
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  2. Saikat Mitra
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  3. Harsha Sugur
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  4. Vikas Vazhayil
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  5. B. Ravi Mohan Rao
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  6. Santosh Kumar Annayappa
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  7. B. N. Nandeesh
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  8. T. C. Yasha
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  9. Vani Santosh
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Correspondence to Vani Santosh.

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Rao, S., Mitra, S., Sugur, H. et al. Central nervous system high grade neuroepithelial tumor with BCOR immunopositivity: Is there a molecular heterogeneity?. Brain Tumor Pathol 38, 41–49 (2021). https://doi.org/10.1007/s10014-020-00381-z

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  • DOI: https://doi.org/10.1007/s10014-020-00381-z

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