| Autor: |
Matthias Dottermusch, Ali Alomari, Nesrin Uksul, Ulrich J. Knappe, Julia Neumann |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Free Neuropathology, Vol 2 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2699-4445 |
| DOI: |
10.17879/freeneuropathology-2021-3640 |
| Popis: |
Atypical teratoid/rhabdoid tumors (AT/RT) are aggressively growing malignant embryonal neoplasms of the central nervous system (CNS), which mainly affect young children. Loss of SMARCB1/INI1 (or SMARCA4 in rare cases) is recognized as the genetic hallmark of AT/RTs and these tumors can be distinguished into three distinct DNA-methylation based molecular subgroups (i.e. -MYC, -SHH and -TYR). While most AT/RTs are considered to occur de novo, previous studies have recognized secondary SMARCB1/INI1-deficient rhabdoid tumors arising from other low grade CNS tumors in young patients. Three AT/RTs, which harbor epigenetic and mutational characteristics of pleomorphic xanthoastrocytoma (PXA), while being entirely void of nuclear SMARCB1/INI1 expression, were recently described in older children. We here report the first case of an AT/RT with molecular features of PXA in a senior patient. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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