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

Authors

Matthew A. Smith-Cohn, Neuro-Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD United States.Follow
Zied Abdullaev, Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD United States.
Kenneth D. Aldape, Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD United States.
Martha Quezado, Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD United States.
Marc K. Rosenblum, Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY United States.
Chad M. Vanderbilt, Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY United States.
Fausto J. Rodriguez, Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD United States.
John Laterra, Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD United States.
Charles G. Eberhart, Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD United States.

Document Type

Article

Abstract

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, -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 fusion, while in this case a rare fusion was identified. Only a few such fusions have been reported, mostly in the brainstem and spinal cord, and they suggest that , rather than , 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.

Publication Date

1-1-2021

Publication Title

Free neuropathology

E-ISSN

2699-4445

Volume

2

PubMed ID

37284624

Digital Object Identifier (DOI)

10.17879/freeneuropathology-2021-3334

Recommended Citation

Smith-Cohn, Matthew A.; Abdullaev, Zied; Aldape, Kenneth D.; Quezado, Martha; Rosenblum, Marc K.; Vanderbilt, Chad M.; Rodriguez, Fausto J.; Laterra, John; and Eberhart, Charles G., "Molecular clarification of brainstem astroblastoma with EWSR1-BEND2 fusion in a 38-year-old man" (2021). Neurology. 1748.
https://scholar.barrowneuro.org/neurology/1748