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Primary intracranial sarcoma, DICER-1 mutant, with hemorrhagic presentation: A case report
Brandon Michael Edelbach1, Vadim Gospodarev2, Ravi Raghavan3
1Department of Neurosurgery, Loma Linda University Medical School, Loma Linda, California, United States.
Surgical Neurology International
|August 7, 2024
Summary
Primary intracranial sarcomas (PIS) are rare brain tumors. This case details a DICER1-associated PIS with complex symptoms and treatment, offering insights into this challenging diagnosis.
Area of Science:
- Neuro-oncology
- Genomic medicine
Background:
- Primary intracranial sarcomas (PIS) are rare, aggressive tumors originating from mesenchymal tissues within the brain.
- These tumors present with diverse clinical symptoms and are associated with a poor patient prognosis.
Observation:
- A 26-year-old male presented with recurrent tumor growth, posing diagnostic and therapeutic challenges.
- The tumor exhibited high-grade spindle-cell morphology with multinucleated giant cells and eosinophilic spheroids.
- Genomic analysis identified a DICER1-associated PIS.
Findings:
- The patient's PIS demonstrated unusual hypervascularity, refractory hemorrhage, and subdural effusions.
- Treatment involved a multimodal approach including embolization, surgery, intrathecal etoposide, pazopanib, and radiation therapy.
Implications:
- This case underscores the complex management of DICER1-associated PIS.
- The reported associations with hypervascularity, hemorrhage, and effusions may guide future diagnostic and therapeutic strategies for PIS.
