Advanced cutaneous angiosarcoma with a TRIM24::BRAF gene fusion treated with trametinib

被引:0
作者
Murphy, Patrick [1 ,2 ]
Pankiw, Maya [3 ]
Gibbings, Nicole [2 ]
Zhang, Lingxin [1 ,2 ]
Watson, Geoffrey [2 ]
机构
[1] Univ Toronto, Temerty Fac Med, Dept Lab Med & Pathobiol, Toronto, ON, Canada
[2] Mt Sinai Hosp PLM, Med Oncol, Toronto, ON, Canada
[3] Univ Toronto, Inst Med Sci, Temerty Fac Med, Toronto, ON, Canada
关键词
Oncology; Pathology; Cancer intervention; Skin cancer; WEEKLY PACLITAXEL; SOFT-TISSUE; PHASE-II; DOXORUBICIN;
D O I
10.1136/bcr-2024-261985
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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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页数:5
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