| Autor: |
Smith-Cohn MA; Neuro-Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD United States.; Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD United States., Abdullaev Z; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD United States., Aldape KD; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD United States., Quezado M; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD United States., Rosenblum MK; Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY United States., Vanderbilt CM; Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY United States., Rodriguez FJ; Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD United States., Laterra J; Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD United States., Eberhart CG; Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD United States. |
| Abstrakt: |
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. |
