Recurrent EP300-BCOR Fusions in Pediatric Gliomas With Distinct Clinicopathologic Features

Journal of Neuropathology and Experimental Neurology
Matthew TorreSanda Alexandrescu

Abstract

BCOR is an epigenetic regulator and is genetically altered by mutation, deletion, or gene fusion in a range of cancers. "Central nervous system high-grade neuroepithelial tumor with BCOR alteration" is a recently described entity with characteristic internal tandem duplications within exon 15 of the BCOR gene (hereafter: CNS HGNET-BCOR ex15 ITD). In this case series of 3 patients, we report the clinicopathologic, molecular, and methylome features of gliomas with novel EP300-BCOR in-frame gene fusions, thus expanding the spectrum of BCOR alterations seen in CNS tumors. The gliomas in this series arise in children (ages 10-18), involve the supratentorial compartment, and have an infiltrative pattern of growth and a myxoid/microcystic background with frequent psammomatous calcifications and prominent chicken-wire vessels. All 3 cases had areas with low-grade morphology and 2 of them demonstrated histologic high-grade transformation. In contrast to CNS HGNET-BCOR ex15 ITD, they lack perivascular pseudorosettes. On a t-Distributed Stochastic Neighbor Embedding plot they cluster perfectly together, away from CNS HGNET-BCOR ex15ITD, consistent with a different entity. Gliomas with EP300-BCOR fusions and high-grade histology can demons...Continue Reading

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Citations

Jan 20, 2020·Neuropathology and Applied Neurobiology·E Perez, D Capper
Oct 19, 2019·Journal of Neuropathology and Experimental Neurology·Timothy E RichardsonMatija Snuderl
Oct 28, 2019·Histopathology·Akihiko YoshidaTatsuhiro Shibata
Jun 5, 2020·Acta Neuropathologica Communications·David J PisapiaJuan Miguel Mosquera
Oct 26, 2020·Genes, Chromosomes & Cancer·Francesca MicciIoannis Panagopoulos
Mar 16, 2021·Frontiers in Oncology·Doriane BaretsDominique Figarella-Branger
Jul 30, 2021·The Journal of Molecular Diagnostics : JMD·Alyaa Al-IbraheemiAlanna J Church
Nov 14, 2020·Surgical Pathology Clinics·Bonnie L Cole, Christopher R Pierson

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