Our aim was to evaluate the concordance between the Myriad MyChoice and two alternative homologous recombination deficiency (HRD) assays (AmoyDx HRD Focus NGS Panel and OncoScan™) in patients with epithelial ovarian cancer (EOC). Tissue samples from 50 patients with newly diagnosed EOC and known Myriad MyChoice HRD status were included. DNA aliquots from tumor samples, previously evaluated with Myriad MyChoice and centrally reassessed, were distributed to laboratories to assess their HRD status using the two platforms, after being blinded for the Myriad MyChoice CDx HRD status. The primary endpoint was the concordance between Myriad MyChoice and each alternative assay. Tumor samples were evaluated with an AmoyDx®HRD Focus Panel (n= 50) and with OncoScan™ (n= 43). Both platforms provided results for all tumors. Analysis showed that correlation was high for the Myriad MyChoice GI score and AmoyDx®HRD Focus Panel (r = 0.79) or OncoScan™ (r = 0.87) (continuous variable). The overall percent agreement (OPA) between Myriad MyChoice GI status (categorical variable) and each alternative assay was 83.3% (68.6–93.3%) with AmoyDx and 77.5% (61.5–89.2%) with OncoScan™. The OPA in HRD status between Myriad MyChoice and AmoyDx was 88.6% (75.4–96.2). False-positive rates were 31.6% (6/19) for AmoyDx GI status and 31.9% (7/22) for OncoScan™, while false-negative rates were 0% (0/28, AmoyDx) and 11.1% (2/18, OncoScan™) compared with the Myriad MyChoice GI status. While substantial concordance between Myriad MyChoice and alternative assays was demonstrated, prospective validation of the analytical performance and clinical relevance of these assays is warranted.
本研究旨在评估Myriad MyChoice检测与两种同源重组缺陷（HRD）替代检测方法（AmoyDx HRD Focus NGS Panel和OncoScan™）在上皮性卵巢癌患者中的一致性。研究纳入50例新诊断上皮性卵巢癌且已知Myriad MyChoice HRD状态的患者的组织样本。将经Myriad MyChoice检测并经中心复核的肿瘤样本DNA分装后，在盲态下分送至各实验室，使用两种平台检测其HRD状态。主要终点为Myriad MyChoice与各替代检测方法间的一致性。使用AmoyDx®HRD Focus Panel（n=50）和OncoScan™（n=43）对肿瘤样本进行检测，两种平台均获得全部肿瘤的检测结果。分析显示，Myriad MyChoice基因组不稳定性评分与AmoyDx®HRD Focus Panel（r=0.79）或OncoScan™（r=0.87）呈高度相关（连续变量）。Myriad MyChoice基因组不稳定性状态（分类变量）与各替代检测的总体符合率分别为：AmoyDx检测83.3%（68.6–93.3%），OncoScan™检测77.5%（61.5–89.2%）。在HRD状态判定方面，Myriad MyChoice与AmoyDx检测的总体符合率为88.6%（75.4–96.2）。以Myriad MyChoice基因组不稳定性状态为参照，AmoyDx基因组不稳定性状态的假阳性率为31.6%（6/19），OncoScan™为31.9%（7/22）；假阴性率分别为0%（0/28，AmoyDx）和11.1%（2/18，OncoScan™）。尽管Myriad MyChoice与替代检测方法显示出较高的一致性，仍需对这些检测方法的分析性能及临床相关性进行前瞻性验证。
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