دورية أكاديمية
Molecular clarification of brainstem astroblastoma with EWSR1-BEND2 fusion in a 38-year-old man.
| العنوان: | Molecular clarification of brainstem astroblastoma with EWSR1-BEND2 fusion in a 38-year-old man. |
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| المؤلفون: | 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. |
| المصدر: | Free neuropathology [Free Neuropathol] 2021 Jun 21; Vol. 2. Date of Electronic Publication: 2021 Jun 21 (Print Publication: 2021). |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: University of Muenster Country of Publication: Germany NLM ID: 101768755 Publication Model: eCollection Cited Medium: Internet ISSN: 2699-4445 (Electronic) Linking ISSN: 26994445 NLM ISO Abbreviation: Free Neuropathol Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Muenster, Germany : University of Muenster, [2020]- |
| مستخلص: | 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. |
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| فهرسة مساهمة: | Keywords: Astroblastoma; Brainstem, Fusion; Methylation; Neoplasms; Neuro-oncology |
| تواريخ الأحداث: | Date Created: 20230607 Latest Revision: 20230608 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC10209864 |
| DOI: | 10.17879/freeneuropathology-2021-3334 |
| PMID: | 37284624 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2699-4445 |
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| DOI: | 10.17879/freeneuropathology-2021-3334 |