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- Title
Central nervous system embryonal tumors with EWSR1-PLAGL1 rearrangements reclassified as INI-1 deficient tumors at relapse.
- Authors
Bielamowicz, Kevin J.; Littrell, Mary Beth; Albert, Gregory W.; Parker, Lora S.; Jayappa, Sateesh; Aldape, Kenneth; Gokden, Murat
- Abstract
Purpose: Central nervous system (CNS) embryonal tumors are a diverse group of malignant tumors typically affecting pediatric patients that recently have been better defined, and this paper describes evolution of a unique type of embryonal tumor at relapse. Methods: Two pediatric patients with CNS embryonal tumors with EWSR1-PLAGL1 rearrangements treated at Arkansas Children's Hospital with histopathologic and molecular data are described. Results: These two patients at diagnosis were classified as CNS embryonal tumors with EWSR1-PLAGL1 rearrangements based on histologic appearance and molecular data. At relapse both patient's disease was reclassified as atypical teratoid rhabdoid tumor (ATRT) based on loss of INI-1, presence of SMARCB1 alterations, and methylation profiling results. Conclusion: CNS embryonal tumors with EWSR1-PLAGL1 rearrangements acquire or include a population of cells with SMARCB1 alterations that are the component that predominate at relapse, suggesting treatment aimed at this disease component at diagnosis should be considered.
- Subjects
ARKANSAS; CENTRAL nervous system tumors; TERATOMA; CHILDREN'S hospitals; CHILD patients; CENTRAL nervous system
- Publication
Journal of Neuro-Oncology, 2024, Vol 168, Issue 2, p367
- ISSN
0167-594X
- Publication type
Case Study
- DOI
10.1007/s11060-024-04667-6