Advanced cutaneous angiosarcoma with aTRIM24::BRAFgene fusion treated with trametinib

Abstract

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 aTRIM24::BRAFgene 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.