Use of ctDNA in identifying an actionable BRAF mutation in stage 4 metastatic melanoma.

Publication date: Jun 22, 2023

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.

Concepts Keywords
Biopsy Cancer intervention
Genetic Oncology
Lifesaving Skin cancer


Type Source Name
disease MESH melanoma
pathway KEGG Melanoma
disease MESH Cancer
disease MESH Skin cancer

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