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Abstract
The identification of genetic variants in melanoma has enabled the development of targeted therapies. Under the National Institute for Health and Care Excellence (NICE) guidance, patients with BRAF V600E variant are eligible for BRAF and MEK inhibitor therapy. For those with advanced or highly symptomatic disease, a rapid response to treatment is often seen. Current practice relies on tissue biopsy to perform immunohistochemistry (IHC) or next generation sequencing (NGS) to identify these variants; however, this can take up to 2 weeks. In patients with widespread disease, rapid initiation of treatment can be lifesaving.
We describe a case in which hotspot circulating tumour DNA (ctDNA) analysis confirmed BRAF variant 6 days prior to biopsy results. This was utilised to expedite treatment initiation and symptomatically, the patient had initial improvement within a few days.
This article demonstrates the potential value of ctDNA analysis and the need for further research into this as an alternative to NGS for patients with rapidly progressive disease.
- Skin cancer
- Oncology
- Malignant disease and immunosuppression
- Cancer intervention
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Footnotes
Contributors CB, SM, KA and RDF 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. CB, SM, KA and RDF gave final approval of the manuscript.
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.