Why the study?
Does trametinib improve clinical and radiological outcomes in a patient with advanced cutaneous angiosarcoma with a TRIM24::BRAF gene fusion?
Does trametinib improve clinical and radiological outcomes in a patient with advanced cutaneous angiosarcoma with a TRIM24::BRAF gene fusion?
Trametinib may provide an effective targeted treatment option for advanced cutaneous angiosarcoma harboring a TRIM24::BRAF gene fusion.
May support MEK inhibition in TRIM24::BRAF-fused angiosarcoma; leaves open confirmation in prospective trials.
A postmenopausal woman presented with a painful, erythematous rash affecting her head and neck. CT imaging revealed diffuse areas of skin thickening affecting her face and neck, and necrotic lymphadenopathy. Additional imaging revealed several osteolytic bone lesions. Biopsy reported a malignant vascular neoplasm, suggestive of angiosarcoma. Molecular analysis reported a TRIM24::BRAF gene fusion. After progression on first-line paclitaxel, the MEK inhibitor trametinib was administered, resulting in an excellent clinical and radiological response. This case reports a novel gene fusion, to our knowledge, the first reported in sarcoma, and highlights the utility and importance of molecular profiling in obtaining access to a treatment that may not otherwise be considered in standard site-specific therapeutic regimens, where therapeutic options may be limited.
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Murphy et al. (2024) studied this question.
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