In-house testing for homologous recombination repair deficiency (HRD) testing in ovarian carcinoma: a feasibility study comparing AmoyDx HRD Focus panel with Myriad myChoiceCDx assay.

IF 4.4 Q1 PATHOLOGY PATHOLOGICA Pub Date : 2022-08-01 DOI:10.32074/1591-951X-791
Caterina Fumagalli, Ilaria Betella, Alberto Ranghiero, Elena Guerini-Rocco, Giulio Bonaldo, Alessandra Rappa, Davide Vacirca, Nicoletta Colombo, Massimo Barberis
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引用次数: 11

Abstract

Background: Homologous recombination repair (HRR) is the main mechanism of repair of DNA double-strand breaks. Its deficiency (HRD) is a common feature of epithelial ovarian cancers (EOCs). BRCA1/2 mutations and/or other aberrations in genes of HRR are well known causes of HRD and genomic instability. Poly ADP-ribose polymerase inhibitors (PARPi) have revolutionized the management of BRCA mutant EOCs and demonstrated activity in HRD tumor cells. Determining HRD status can provide informations on the magnitude of benefit for PARPi therapy. Myriad MyChoice CDx is a next generation sequencing- based in vitro diagnostic test that assesses the Genomic Instability Score (GIS) which is an algorithmic measurement of loss of heterozygosity, telomeric allelic imbalance, and large-scale state transitions using DNA isolated from formalin-fixed paraffin embedded tumor tissue specimens. However Myriad MyChoice CDx, is a centrally performed and costly assay, with no reimbursement scheduled, at least in Italy.

Methods: In this report, we described our experience in performing the HRD Focus AmoyDx (Amoy Diagnostics Ltd, Xiamen, Fujian, China) on the same samples of EOCs evaluated with Myriad MyChoiceCDx assay.

Results: The overall percent agreement between AmoyDx and Myriad was 87.8% (65 of 74 tumors tested). All the 36 AmoyDx negative cases were confirmed to be negative by Myriad (negative predictive value, 100%).

Conclusions: The concordance of the results with the gold standard Myriad MyChoice CDx assay suggest the feasibility and reliability of HRD testing in diagnostic laboratories with high-throughput NGS platforms and qualified personnel.

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卵巢癌同源重组修复缺陷(HRD)检测的内部检测:比较AmoyDx HRD焦点面板与Myriad myChoiceCDx检测的可行性研究
背景:同源重组修复(Homologous recombination repair, HRR)是DNA双链断裂修复的主要机制。其缺乏(HRD)是上皮性卵巢癌(EOCs)的共同特征。BRCA1/2突变和/或HRR基因的其他畸变是众所周知的HRD和基因组不稳定的原因。聚adp核糖聚合酶抑制剂(PARPi)已经彻底改变了BRCA突变型EOCs的管理,并在HRD肿瘤细胞中显示出活性。确定HRD状态可以提供PARPi治疗获益程度的信息。Myriad MyChoice CDx是下一代基于测序的体外诊断测试,评估基因组不稳定性评分(GIS),这是一种算法测量杂合性损失,端粒等位基因失衡,以及使用从福尔马林固定石蜡包埋的肿瘤组织标本中分离的DNA进行大规模状态转换。然而,Myriad MyChoice CDx是一种集中执行且昂贵的检测方法,至少在意大利没有报销计划。方法:在本报告中,我们描述了我们使用HRD Focus AmoyDx(厦大诊断有限公司,厦门,福建,中国)对用Myriad MyChoiceCDx检测的相同EOCs样品进行检测的经验。结果:AmoyDx和Myriad之间的总体一致性百分比为87.8%(74例肿瘤中有65例)。36例AmoyDx阴性病例经Myriad检测均为阴性(阴性预测值100%)。结论:结果与金标准Myriad MyChoice CDx法的一致性表明,在具有高通量NGS平台和合格人员的诊断实验室中检测HRD的可行性和可靠性。
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来源期刊
PATHOLOGICA
PATHOLOGICA PATHOLOGY-
CiteScore
5.90
自引率
5.70%
发文量
108
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