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Oncology
Advanced cutaneous angiosarcoma with a TRIM24::BRAF gene fusion treated with trametinib
  1. Patrick Murphy1,2,
  2. Maya Pankiw3,
  3. Nicole Gibbings2,
  4. Lingxin Zhang1,2 and
  5. Geoffrey Watson2
  1. 1 Department of Laboratory Medicine and Pathobiology, University of Toronto, Temerty Faculty of Medicine, Toronto, Ontario, Canada
  2. 2 Medical Oncology, Mount Sinai Hospital PLM, Toronto, Ontario, Canada
  3. 3 Institute of Medical Science, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada
  1. Correspondence to Dr Geoffrey Watson; geoffrey.watson{at}uhn.ca

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 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.

  • Oncology
  • Pathology
  • Cancer intervention
  • Skin cancer

https://doi.org/10.1136/bcr-2024-261985

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    Footnotes

    • X @GeoffAWatson1

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: PM, MP, LZ, NG and GW. Guarantor is GW. The following authors gave final approval of the manuscript: PM, MP, LZ, NG and GW. The following author is the clinician in charge of the clinical care of the patient, who supervised the preparation of the manuscript, was responsible for obtaining informed consent from the patient/guardian/family members and is responsible for the overall integrity of the content of the manuscript: GW.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.