NCI-myeloMATCH测定的分析性能-一种髓系疾病的快速周转基因组分析测定。

IF 3.4 3区 医学 Q1 PATHOLOGY
Cecilia C S Yeung, Srikrishna K Narava, Ting-Chia Chang, Maria Saeed, Lauri Aicher, Lan W Beppu, Marvin S Majano, Erin M Taylor, Corinne E Camalier, Pooja Sandhuria, Olga Sala-Torra, Jessica Li, Laura M Yee, Lisa M McShane, Chris Karlovich, Richard F Little, Lyndsay Harris, James H Doroshow, Paul M Williams, Jerald P Radich, Shahanawaz Jiwani
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引用次数: 0

摘要

MyeloMATCH是美国国家癌症研究所(NCI)的一项精准医学临床试验计划,旨在根据患者的诊断、临床和遗传特征来评估急性髓性白血病(AML)和骨髓增生异常综合征(MDS)的治疗方法。NCI髓系测定v2 (NMAv2)使用Ion Torrent Genexus系统,这是一个自动化平台,从标本接收到报告的周期小于48小时,为两个独立的临床实验室提供符合法规的使用,并具有统一的工作流程。使用骨髓抽吸液或外周血临床标本、细胞系和人造参照物,NMAv2对291个已知突变的敏感性为99%,特异性为100%。检测所有可报告的变异观察到高再现性,在六次再现性评估中,平均阳性百分比一致性(PPA)为bb0 98%,阴性百分比一致性(NPA)为100%。伴随诊断生物标志物(1-1.5倍临床LOR)的重复性实验显示PPA和NPA 100%。热点snv的检出限为0.06%,非热点snv的检出限为0.16%,热点索引的检出限为0.51%,非热点索引的检出限为~ 1%,FLT3-ITDs的检出限为0.23%,融合体在0.1%肿瘤含量下≤40 reads。在敏感性研究中,76例盲法髓系标本的正交试验的一致性为99.39%,54例FLT3-ITD标本的一致性为100%。结果表明,NMAv2具有高特异性、敏感性、准确性和可重复性,可以快速表征AML和MDS的基因组改变。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Analytical Performance of the NCI-myeloMATCH Assay: A Rapid Turnaround Genomic Profiling Assay for Myeloid Disorders.

myeloMATCH is a National Cancer Institute precision medicine clinical trial initiative to evaluate treatments for acute myeloid leukemia and myelodysplastic syndrome based on a patient's diagnostic presenting clinical and genetic profile. The National Cancer Institute myeloid assay version 2 (NMAv2) uses the Ion Torrent Genexus System, an automated platform with <48-hour turnaround from specimen receipt to reporting, to provide regulatory-compliant use for myeloMATCH across two independent clinical laboratories with harmonized workflows. Using marrow aspirate or peripheral blood clinical specimens, cell lines, and contrived reference materials, NMAv2 exhibited 99% sensitivity for 291 known mutations and 100% specificity. High reproducibility detecting all reportable variants was observed, with >98% mean positive percentage agreement and 100% negative percent agreement across six reproducibility assessments. Reproducibility experiments of companion diagnostic biomarkers (1 to 1.5× clinical limit of reporting) showed 100% positive percentage agreement and negative percent agreement. The limit of detection was 0.06% for hotspot single-nucleotide variants, 0.16% for non-hotspot single-nucleotide variants, 0.51% for hotspot insertion/deletions, approximately 1% for non-hotspot insertion/deletions, 0.23% for FLT3-internal tandem duplications, and ≤40 reads at 0.1% tumor content for fusions. Concordance of 99.39% was observed in orthogonal assays testing 76 blinded myeloid specimens in the sensitivity study, and 100% concordance was observed in testing 54 FLT3-internal tandem duplication specimens. The results show that NMAv2 has high specificity, sensitivity, accuracy, and reproducibility, and it can rapidly characterize genomic alterations in acute myeloid leukemia and myelodysplastic syndrome.

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来源期刊
CiteScore
8.10
自引率
2.40%
发文量
143
审稿时长
43 days
期刊介绍: The Journal of Molecular Diagnostics, the official publication of the Association for Molecular Pathology (AMP), co-owned by the American Society for Investigative Pathology (ASIP), seeks to publish high quality original papers on scientific advances in the translation and validation of molecular discoveries in medicine into the clinical diagnostic setting, and the description and application of technological advances in the field of molecular diagnostic medicine. The editors welcome for review articles that contain: novel discoveries or clinicopathologic correlations including studies in oncology, infectious diseases, inherited diseases, predisposition to disease, clinical informatics, or the description of polymorphisms linked to disease states or normal variations; the application of diagnostic methodologies in clinical trials; or the development of new or improved molecular methods which may be applied to diagnosis or monitoring of disease or disease predisposition.
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