Molecular clarification of brainstem astroblastoma with EWSR1-BEND2 fusion in a 38-year-old man

The majority of astroblastoma occur in a cerebral location in children and young adults. Here we describe the unusual case of a 38-year-old man found to have a rapidly growing cystic enhancing circumscribed brainstem tumor with high grade histopathology classified as astroblastoma, MN1-altered by m...

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Main Authors:	Matthew A Smith-Cohn, Zied Abdullaev, Kenneth D. Aldape, Martha Quezado, Marc K. Rosenblum, Chad M. Vanderbilt, Fausto J. Rodriguez, John Laterra, Charles G. Eberhart
Format:	Article
Language:	English
Published:	University of Münster / Open Journals System 2021-06-01
Series:	Free Neuropathology
Subjects:	Astroblastoma Brainstem Fusion Methylation Neoplasms Neuro-oncology
Online Access:	https://www.uni-muenster.de/Ejournals/index.php/fnp/article/view/3334

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spelling	doaj-a0c1d1e14a9a45e2b27ce51789faaf312021-06-21T16:47:15ZengUniversity of Münster / Open Journals SystemFree Neuropathology2699-44452021-06-01210.17879/freeneuropathology-2021-3334Molecular clarification of brainstem astroblastoma with EWSR1-BEND2 fusion in a 38-year-old manMatthew A Smith-Cohn0Zied Abdullaev1Kenneth D. Aldape2Martha Quezado3Marc K. Rosenblum4Chad M. Vanderbilt5Fausto J. Rodriguez6John Laterra7Charles G. Eberhart8Neuro-Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA; Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, USALaboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USALaboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USALaboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USADepartment of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY, USADepartment of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY, USADepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD, USADepartment of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, USADepartment of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA The majority of astroblastoma occur in a cerebral location in children and young adults. Here we describe the unusual case of a 38-year-old man found to have a rapidly growing cystic enhancing circumscribed brainstem tumor with high grade histopathology classified as astroblastoma, MN1-altered by methylome profiling. He was treated with chemoradiation and temozolomide followed by adjuvant temozolomide without progression to date over one year from treatment initiation. Astroblastoma most frequently contain a MN1-BEND2 fusion, while in this case a rare EWSR1-BEND2 fusion was identified. Only a few such fusions have been reported, mostly in the brainstem and spinal cord, and they suggest that BEND2, rather than MN1, may have a more critical functional role, at least in these regions. This unusual clinical scenario exemplifies the utility of methylome profiling and assessment of gene fusions in tumors of the central nervous system. https://www.uni-muenster.de/Ejournals/index.php/fnp/article/view/3334AstroblastomaBrainstemFusionMethylationNeoplasmsNeuro-oncology
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Matthew A Smith-Cohn Zied Abdullaev Kenneth D. Aldape Martha Quezado Marc K. Rosenblum Chad M. Vanderbilt Fausto J. Rodriguez John Laterra Charles G. Eberhart
spellingShingle	Matthew A Smith-Cohn Zied Abdullaev Kenneth D. Aldape Martha Quezado Marc K. Rosenblum Chad M. Vanderbilt Fausto J. Rodriguez John Laterra Charles G. Eberhart Molecular clarification of brainstem astroblastoma with EWSR1-BEND2 fusion in a 38-year-old man Free Neuropathology Astroblastoma Brainstem Fusion Methylation Neoplasms Neuro-oncology
author_facet	Matthew A Smith-Cohn Zied Abdullaev Kenneth D. Aldape Martha Quezado Marc K. Rosenblum Chad M. Vanderbilt Fausto J. Rodriguez John Laterra Charles G. Eberhart
author_sort	Matthew A Smith-Cohn
title	Molecular clarification of brainstem astroblastoma with EWSR1-BEND2 fusion in a 38-year-old man
title_short	Molecular clarification of brainstem astroblastoma with EWSR1-BEND2 fusion in a 38-year-old man
title_full	Molecular clarification of brainstem astroblastoma with EWSR1-BEND2 fusion in a 38-year-old man
title_fullStr	Molecular clarification of brainstem astroblastoma with EWSR1-BEND2 fusion in a 38-year-old man
title_full_unstemmed	Molecular clarification of brainstem astroblastoma with EWSR1-BEND2 fusion in a 38-year-old man
title_sort	molecular clarification of brainstem astroblastoma with ewsr1-bend2 fusion in a 38-year-old man
publisher	University of Münster / Open Journals System
series	Free Neuropathology
issn	2699-4445
publishDate	2021-06-01
description	The majority of astroblastoma occur in a cerebral location in children and young adults. Here we describe the unusual case of a 38-year-old man found to have a rapidly growing cystic enhancing circumscribed brainstem tumor with high grade histopathology classified as astroblastoma, MN1-altered by methylome profiling. He was treated with chemoradiation and temozolomide followed by adjuvant temozolomide without progression to date over one year from treatment initiation. Astroblastoma most frequently contain a MN1-BEND2 fusion, while in this case a rare EWSR1-BEND2 fusion was identified. Only a few such fusions have been reported, mostly in the brainstem and spinal cord, and they suggest that BEND2, rather than MN1, may have a more critical functional role, at least in these regions. This unusual clinical scenario exemplifies the utility of methylome profiling and assessment of gene fusions in tumors of the central nervous system.
topic	Astroblastoma Brainstem Fusion Methylation Neoplasms Neuro-oncology
url	https://www.uni-muenster.de/Ejournals/index.php/fnp/article/view/3334
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Molecular clarification of brainstem astroblastoma with EWSR1-BEND2 fusion in a 38-year-old man

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