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Primary intracranial Ewing's sarcoma with unusual features.
Katherine A VandenHeuvel1, Rami N Al-Rohil2, Michael E Stevenson1
1Department of Pathology, University of Oklahoma Health Sciences Center Oklahoma City, OK 73104, USA.
International Journal of Clinical and Experimental Pathology
|March 11, 2015
Summary
Ewing sarcoma/primitive neuroectodermal tumor (ES/pPNET) of the CNS is rare and can present with unusual histology, especially in children. Accurate diagnosis using molecular techniques like FISH is crucial for effective treatment and improved outcomes.
Area of Science:
- Neuro-oncology
- Pediatric Oncology
- Molecular Pathology
Background:
- Pediatric primary central nervous system (CNS) small round blue cell tumors encompass diverse entities.
- Ewing sarcoma/primitive neuroectodermal tumor (ES/pPNET) is a rare CNS tumor requiring differentiation from other malignancies like medulloblastoma and ependymoma.
- Effective ES/pPNET therapy has significant side effects, underscoring the importance of accurate diagnosis.
Observation:
- This study reports three primary CNS ES/pPNET cases, two in pediatric patients.
- While the adult case exhibited classic histopathology, the pediatric cases showed atypical features, one resembling sarcoma and the other ependymoma.
- All three cases were confirmed via fluorescent in situ hybridization (FISH) for characteristic translocations.
Findings:
- Primary CNS ES/pPNET can present with non-classic histopathological morphology, particularly in pediatric populations.
- Immunohistochemistry (CD99) and molecular testing (FISH for EWSR1/FUS translocations) are essential for definitive diagnosis.
- The study highlights the need for a high index of suspicion for ES/pPNET when encountering atypical small blue cell tumors in the CNS.
Implications:
- Recognizing the varied histology of CNS ES/pPNET is vital for timely and accurate diagnosis.
- Advanced diagnostic techniques, including FISH, are critical for confirming ES/pPNET and guiding treatment decisions.
- Further research is needed to understand the long-term prognosis of CNS ES/pPNET, especially in pediatric patients.
