Oncology, Velindre University NHS Trust, Cardiff, UK
Oncology, All Wales Medical Genetics Service, Cardiff, UK.
BMJ Case Rep. 2023 Jun 22;16(6):e254268. doi: 10.1136/bcr-2022-254268.
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.
黑色素瘤中遗传变异的鉴定使靶向治疗成为可能。根据英国国家卫生与临床优化研究所（NICE）的指导，BRAF V600E 变异的患者有资格接受 BRAF 和 MEK 抑制剂治疗。对于那些患有晚期或高度有症状疾病的患者，通常可以看到对治疗的快速反应。目前的做法依赖于组织活检来进行免疫组织化学（IHC）或下一代测序（NGS）以鉴定这些变体；然而，这可能需要长达 2 周的时间。对于患有广泛疾病的患者，快速开始治疗可能是救命的。我们描述了一个案例，其中热点循环肿瘤 DNA（ctDNA）分析在活检结果前 6 天确认了 BRAF 变体。这被用于加速治疗的启动，并且在症状上，患者在几天内有了初步的改善。本文展示了 ctDNA 分析的潜在价值，以及需要进一步研究将其作为替代 NGS 用于快速进展性疾病患者的方法。
