| Autor: |
Sharon E. Plon, Raghu Chandramohan, Frank Y. Lin, Angshumoy Roy, Donna M. Muzny, Fatema Malbari, Kevin E. Fisher, Arnold C. Paulino, Stephen C. Mack, Jianhong Hu, Richard A. Gibbs, Jacquelyn Reuther, Marcia Kukreja, Daniel J. Curry, Ross Mangum, Adekunle M. Adesina, D. Williams Parsons, Murali Chintagumpala, Kelsey C. Bertrand |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
JCO Precis Oncol |
| ISSN: |
2473-4284 |
| DOI: |
10.1200/po.20.00375 |
| Popis: |
Ependymomas comprise approximately 10 percent of childhood CNS malignancies and are associated with dismal outcomes if metastatic, incompletely resected, or recurrent.1 Standard therapy consists of maximal safe surgical resection followed by focal irradiation.2 Recurrent fusion genes involving C11orf95-RELA or YAP1 have been identified in supratentorial ependymomas, but targetable molecular lesions are rare.3,4 Here, we report a sustained response to larotrectinib in a pediatric patient with a histologic diagnosis of recurrent metastatic anaplastic ependymoma, whose molecular testing unexpectedly revealed a KANK1-NTRK2 fusion and methylation profile most consistent with pleomorphic xanthoastrocytoma (PXA). This case highlights the potentially profound clinical implications of integrating genomic profiling into the diagnostic evaluation of pediatric CNS tumors. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
