IdyllaTM 和 ArcherTM 检测斑点黑色素细胞瘤基因融合的性能比较分析。

IF 7.1 1区 医学 Q1 PATHOLOGY Modern Pathology Pub Date : 2024-06-14 DOI:10.1016/j.modpat.2024.100538
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引用次数: 0

摘要

如果不能确定激酶融合等遗传驱动因素,通常很难对具有斑点组织形态的黑素细胞瘤进行分类。传统的诊断方法(如免疫组化)可能无法得出结论,而先进的技术(如阿彻融合检测法)往往难以使用且成本高昂。Idylla 基因融合检测法可能是一种快速、经济的替代方法。本研究比较了 Idylla 和 Archer 在鉴定 ALK、pan-NTRK、RET 和 ROS1 基因融合方面的效果。在 147 份下一代测序未检测到基因驱动因素的样本中,89 份(60.5%)符合组织要求的样本使用 Idylla 进行了进一步分析(队列 A)。Idylla 在检测这些融合方面的灵敏度为 75%,特异性为 100%。此外,在随机抽取的 27 个不符合纳入标准的病例(队列 B)中,Idylla 保持了相同的灵敏度和特异性水平。我们的研究结果还表明,Idylla 可以有效地使用分离的 RNA,从而扩大了其在组织样本之外的适用范围。虽然Idylla检测可能无法取代Archer等更全面的分子检测,但它可以作为诊断棘黑色素细胞肿瘤的一种有价值的初步筛选工具。
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Comparative Performance Analysis of Idylla and Archer in the Detection of Gene Fusions in Spitzoid Melanocytic Tumors

Melanocytic neoplasms with spitzoid histomorphology are often difficult to classify without identifying genetic drivers such as kinase fusions. Traditional diagnostic methods, such as immunohistochemistry, can yield inconclusive results, and advanced techniques such as the Archer fusion assay are often inaccessible and costly. The Idylla GeneFusion Assay might offer a rapid and cost-effective alternative. This study compared Idylla and Archer in identifying ALK, pan-NTRK, RET, and ROS1 gene fusions. Of the 147 samples where next-generation sequencing did not detect genetic drivers, 89 (60.5%) meeting the tissue requirements were further analyzed using Idylla (Cohort A). Idylla demonstrated a sensitivity of 75% and a specificity of 100% in detecting these fusions. Additionally, among 27 randomly selected cases (Cohort B) that failed to meet the inclusion criteria, Idylla maintained the same levels of sensitivity and specificity. Our findings also show that Idylla can be effectively conducted with isolated RNA, broadening its applicability beyond tissue samples. Although the Idylla assay may not replace more comprehensive molecular assays such as Archer, it could serve as a valuable initial screening tool in diagnosing spitzoid melanocytic tumors.

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来源期刊
Modern Pathology
Modern Pathology 医学-病理学
CiteScore
14.30
自引率
2.70%
发文量
174
审稿时长
18 days
期刊介绍: Modern Pathology, an international journal under the ownership of The United States & Canadian Academy of Pathology (USCAP), serves as an authoritative platform for publishing top-tier clinical and translational research studies in pathology. Original manuscripts are the primary focus of Modern Pathology, complemented by impactful editorials, reviews, and practice guidelines covering all facets of precision diagnostics in human pathology. The journal's scope includes advancements in molecular diagnostics and genomic classifications of diseases, breakthroughs in immune-oncology, computational science, applied bioinformatics, and digital pathology.
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