Внутрішньочерепна мезенхімальна пухлина зі злиттям FET::CREB: діагностичні та терапевтичні проблеми в дорослого пацієнта. Клінічний випадок

Aims: To highlight the diagnostic and therapeutic challenges of intracranial mesenchymal tumors with FET::CREB fusion, emphasizing the role of molecular diagnostics and immunohistochemistry in accurate identification. Case report: A 44-year-old male presented with seizures and chronic headaches. Brain MRI revealed a well-defined, enhancing lesion in the left frontal lobe with significant perilesional edema. Gross total resection was performed. Histopathological analysis showed round to oval, spindle, and epithelioid cells within a mucoid stroma, along with lymphoplasmacytic infiltration and prominent vasculature. Immunohistochemistry revealed positivity for EMA, CD99, and Desmin, while molecular testing confirmed the presence of EWSR1::CREB fusion. Adjuvant chemotherapy with temozolomide and irinotecan was administered. Discussion: FET::CREB fusion-positive tumors, a molecular variant of angiomatoid fibrous histiocytoma, exhibit diverse morphological features resembling meningiomas or schwannomas. Accurate diagnosis relies on advanced molecular tools. Treatment primarily involves surgical resection, with adjuvant therapies tailored to the tumor’s molecular profile. Conclusion: Early and precise diagnosis using molecular studies is critical for guiding treatment decisions. Further research is needed to refine therapeutic strategies and explore targeted therapies for these rare tumors.