曲美替尼
医学
肉瘤
血管肉瘤
融合基因
活检
病理
皮肤活检
癌症研究
肿瘤科
放射科
基因
生物
MAPK/ERK通路
激酶
生物化学
细胞生物学
作者
Patrick Murphy,Maya Pankiw,Nicole Gibbings,Lingxin Zhang,Geoffrey Alan Watson
出处
期刊:Case Reports
[BMJ]
日期:2024-12-01
卷期号:17 (12): e261985-e261985
标识
DOI:10.1136/bcr-2024-261985
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.
科研通智能强力驱动
Strongly Powered by AbleSci AI