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使用ctDNA识别可操作的BRAF突变在第四阶段的转移性黑色素瘤

Charlotte Bennett¹, Sian Morgan², Karam Aboud³

¹Oncology, Velindre University NHS Trust, Cardiff, UK charlotte.bennett2@wales.nhs.uk.

BMJ case reports

|June 22, 2023

概括

与传统的组织活检相比,循环瘤DNA (ctDNA) 分析提供了一种更快的方法来识别黑色素瘤患者的BRAF变体. 这种快速识别可以加速为患有晚期疾病的人提供拯救生命的向治疗.

科学领域:

在瘤学瘤学.
遗传学是一个遗传学.
分子诊断学分子诊断

背景情况:

针对黑色素瘤的向疗法以特定遗传变异的识别为指导,例如BRAF V600E.
国家卫生和护理卓越研究所 (NICE) 的指导方针建议BRAF和MEK抑制剂治疗BRAF V600E变种患者.
目前的诊断方法,包括免疫组织化学 (IHC) 和下一代测序 (NGS) 在组织活检上,可以延迟治疗的开始,因为最多两周的周转时间.

研究的目的:

评估循环瘤DNA (ctDNA) 分析作为用于识别黑色素瘤中BRAF变异的快速诊断工具的潜力.
为了证明如何加快变种识别可以导致更快的治疗开始和改善患者的结果在快速进展的黑色素瘤的病例.

主要方法:

一个案例研究描述了热点循环瘤DNA (ctDNA) 分析的利用.
将ctDNA分析周转时间与传统组织活检结果 (IHC/NGS) 的比较.

主要成果:

ctDNA分析在组织活检结果的6天前确定了BRAF变体.
患者在加快治疗开始后的几天内出现了症状改善.

结论:

ctDNA分析显示,作为NGS的快速替代品,它有望用于识别黑色素瘤中可向变体,特别是在快速进展的病例中.
需要进一步的研究,以确定ctDNA分析作为需要及时治疗的黑色素瘤患者的标准诊断方法.

关键词:

癌症干预干预癌症干预恶性疾病和免疫抑制在瘤学瘤学.皮肤癌是一种皮肤癌.

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