PACLseq:使用纳米孔测序的ph样急性淋巴细胞白血病的独立诊断方法。

IF 10.7 Q1 MEDICINE, RESEARCH & EXPERIMENTAL
MedComm Pub Date : 2025-09-16 DOI:10.1002/mco2.70360
Hang Zhang, Huan Yu, Yanmei Chen, Kai Jiang, Beibei Huo, Jialin Li, Ting Liu, Dan Xie
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引用次数: 0

摘要

及时准确地检测费城染色体样急性淋巴细胞白血病(Ph-like ALL)相关融合基因对治疗决策至关重要。然而,由于ph样ALL可能的基因融合组合的复杂性,目前的诊断工作流程面临着严重的局限性:周转时间长(7-14天)、成本高、降解标本不足。在这项研究中,我们介绍了部分锚定捕获和长读测序(PACLseq),这是一种基于纳米孔测序技术的方法。我们设计了一个与ph样ALL相关的检测面板,特别是ABL2, CSF1R, PDGFRB, JAK2, ABL1, EPOR和CRLF2作为靶基因。经47份临床样本验证,PACLseq对26份降解RNA样本(RIN bbbb3)的灵敏度为93.3%,特异性为100%。至关重要的是,PACLseq在转录本片段化的9个低RIN样本(RIN≤3)中保持了检测准确性。该方法只需要10 ng的RNA输入,在3天内提供结果(传统方法需要7-14天),并降低了50%的成本。通过提供快速准确的融合检测,PACLseq有可能显著提高诊断效率,促进及时的治疗决策,并改善ph样ALL治疗的患者结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

PACLseq: A Standalone Diagnostic Method for Ph-Like Acute Lymphoblastic Leukemia Using Nanopore Sequencing

PACLseq: A Standalone Diagnostic Method for Ph-Like Acute Lymphoblastic Leukemia Using Nanopore Sequencing

Timely and accurate detection of Philadelphia chromosome–like acute lymphoblastic leukemia (Ph-like ALL)-related fusion gene is essential for treatment decisions. However, due to the complexity of possible gene fusion combinations of Ph-like ALL, current diagnostic workflows face critical limitations: prolonged turnaround (7–14 days), high costs, and deficiency in degraded specimens. In this study, we introduce Partial Anchored Capture and Long-Read Sequencing (PACLseq), a nanopore-sequencing-technology-based approach. We designed a detection panel associated with Ph-like ALL, specifically ABL2, CSF1R, PDGFRB, JAK2, ABL1, EPOR, and CRLF2 as target genes. Validated on 47 clinical samples, PACLseq achieved 93.3% sensitivity and 100% specificity in 26 degraded RNA samples (RIN > 3). Crucially, PACLseq maintained detection accuracy in nine low-RIN samples (RIN ≤ 3) with fragmented transcripts. The method requires only 10 ng of RNA input, delivers results in 3 days (vs. 7–14 days for conventional methods), and reduces costs by 50%. By offering rapid and accurate fusion detection, PACLseq has the potential to significantly improve diagnostic efficiency, facilitate timely treatment decisions, and enhance patient outcomes in the management of Ph-like ALL.

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来源期刊
CiteScore
6.70
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