下一代白血病诊断:LC-MS/MS蛋白质组学与液体活检平台的整合

Vivek Singh
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引用次数: 0

摘要

诊断白血病通常依赖于侵入性骨髓活检,这可能是痛苦的,并且可能无法发现疾病的早期阶段。液体活检是一种分析血液中循环生物标志物的微创方法,已成为早期检测白血病的有力工具。在新兴技术中,液相色谱-串联质谱(LC-MS/MS)能够对血液蛋白质进行高通量和敏感的分析,从而为生物标志物的发现创造了新的机会。这篇小型综述强调了LC-MS/MS在白血病液体活检中的临床潜力,重点是t细胞急性淋巴细胞白血病(T-ALL)。最近的蛋白质组学研究已经在T-ALL患者的血液中发现了不同的蛋白质特征,如XRRA1、CPNE4和S100A8,这些蛋白质特征具有重要的诊断价值。我们还讨论了在急性髓性白血病(AML)中的类似应用,临床翻译的挑战,以及蛋白质组学与多组学诊断平台的未来整合。重要的是,我们讨论了当前研究的局限性(例如,小队列、有限的多样性和可重复性问题)和临床实施的途径,包括在更大规模的试验中验证、监管考虑、成本效益和对标准化方案的需求。LC-MS/ ms驱动的液体活检代表了早期、低侵入性和更精确的白血病诊断的有希望的进步,前提是强大的验证和协调工作是成功的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Next-generation leukemia diagnostics: Integrating LC-MS/MS proteomics with liquid biopsy platforms
Diagnosing leukemia often depends on invasive bone marrow biopsies, which can be painful and may fail to detect the early stages of the disease. Liquid biopsy, a minimally invasive method that analyzes circulating biomarkers in blood, has emerged as a powerful tool for the early detection of leukemia. Among emerging technologies, liquid chromatography-tandem mass spectrometry (LC-MS/MS) enables high-throughput and sensitive profiling of blood-based proteins, thereby creating new opportunities for biomarker discovery. This mini-review highlights the clinical potential of LC-MS/MS in liquid biopsy for leukemia, with a focus on T-cell acute lymphoblastic leukemia (T-ALL). Recent proteomic studies have identified distinct protein signatures in the blood of T-ALL patients, such as XRRA1, CPNE4, and S100A8, which show substantial diagnostic value. We also address similar applications in acute myeloid leukemia (AML), the challenges of clinical translation, and the future integration of proteomics with multi-omics diagnostic platforms. Importantly, we discuss the limitations of current studies (e.g., small cohorts, limited diversity, and reproducibility issues) and the path toward clinical implementation, including validation in larger trials, regulatory considerations, cost-effectiveness, and the need for standardized protocols. LC-MS/MS-driven liquid biopsy represents a promising advancement toward earlier, less invasive, and more precise leukemia diagnostics, provided that robust validation and harmonization efforts are successful.
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