Lenders Daniela, Bonzheim Irina, Hahn Matthias, Gassenmaier Maximilian, Aebischer Valentin, Forschner Andrea, Lenders Max Matthias, Flatz Lukas, Forchhammer Stephan
Department of Dermatology, University of Tuebingen, 72076 Tuebingen, Germany.
Department of Pathology, University of Tuebingen, 72076 Tuebingen, Germany.
Diagnostics (Basel). 2024 Jul 30;14(15):1644. doi: 10.3390/diagnostics14151644.
Next-generation sequencing (NGS) is the most commonly used method for determining mutational status in patients with advanced melanoma. Automated PCR-based methods, such as the Idylla system, are increasingly used for mutation diagnostics, but it is unclear what impact the choice of diagnostic method has on the management of melanoma.
To compare the concordance rate of V600 mutational analysis using Idylla and NGS and to analyze the technical and clinical turnaround time. The clinical relevance is compared by analyzing the impact on the treatment decision.
In this monocentric prospective cohort study, the mutation status of 51 patients was determined using both methods in parallel.
V600 mutation was detected in 23/51 cases (45%). Idylla showed a 100% concordant result with a faster turnaround time (0.2 days) compared to NGS (12.2 days). In general, less tumor material was required for Idylla than for NGS. Most patients received immunotherapy as a first-line therapy regardless of the V600 status.
Idylla testing proved to be a reliable and rapid alternative to NGS in the determination of V600 mutation. Although status was available earlier, this had no influence on the treatment decision in most cases.
下一代测序(NGS)是确定晚期黑色素瘤患者突变状态最常用的方法。基于自动化聚合酶链反应(PCR)的方法,如Idylla系统,越来越多地用于突变诊断,但尚不清楚诊断方法的选择对黑色素瘤的治疗管理有何影响。
比较使用Idylla和NGS进行V600突变分析的一致性率,并分析技术和临床周转时间。通过分析对治疗决策的影响来比较临床相关性。
在这项单中心前瞻性队列研究中,对51例患者同时使用两种方法确定其突变状态。
51例中有23例(45%)检测到V600突变。与NGS(12.2天)相比,Idylla显示出100%的一致结果,周转时间更快(0.2天)。一般来说,Idylla所需的肿瘤材料比NGS少。大多数患者无论V600状态如何,均接受免疫治疗作为一线治疗。
在确定V600突变方面,Idylla检测被证明是一种可靠且快速的替代NGS的方法。尽管结果更早获得,但在大多数情况下,这对治疗决策没有影响。