一种基于血液的检测晚期腺瘤患者的方法。

IF 2 Q3 ONCOLOGY

Cancer research communications Pub Date : 2025-04-01 DOI:10.1158/2767-9764.CRC-24-0398

Kamel Lahouel, Christopher Douville, Brenda Diergaarde, Joshua D Cohen, Haley Grant, Albert Kuo, Saad K Ansari, Yuxuan Wang, Anne Marie O'Broin-Lennon, Maria Popoli, Janine Ptak, Natalie Silliman, Lisa Dobbyn, Nadine Nehme, Jeanne Tie, Peter Gibbs, Nickolas Papadopoulos, Kenneth W Kinzler, Bert Vogelstein, Robert E Schoen, Cristian Tomasetti

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引用次数: 0

摘要

通过血液检测筛查结直肠癌（CRC）可以发现晚期腺瘤（AAs），促进更有效的癌症预防。我们评估了检测血浆中AAs的四种不同方法：(a)基于无细胞DNA （cfDNA）片段的机器学习算法SignaL（片段长度签名）；(b)测定17种癌症相关蛋白的“Protein-17”测定法；(c)全球非整倍性评分（GAS）；(d) cfDNA突变分析，查询CRC中常见突变的15个基因。来自研究人群的现有数据用于确定99.5%的特异性阈值。我们研究了40例AA病例和32例结肠镜阴性对照。SignaL检测出9/40个AAs (22.5%, 95%CI: 12.3-37.5%)，特异性为100% （95%CI: 89.3-100%）。Protein-17检测出5/40例AAs (12.5%, 95%CI: 5.5-26.1%)，包括3例未被SignaL识别的病例，特异性为100% （95%CI: 89.3 - 100%）。GAS检测到11/40的AAs (27.5%, 95%CI: 16.1-42.8%)，但结果为2/32的阳性对照（93.8%特异性，95%CI: 79.9-98.3%）。结合SignaL、Protein-17测定和GAS，在99.5%的特异性阈值下检测出16/40的AAs (40%, 95% CI:26.3-55.4%)，在93.8%的特异性（95% CI: 79.9% - 98.3%）。在32/40份可评价的AA血浆样本中，cfDNA突变阳性的只有1份，差异具有0.01的显著性。基于重复序列元素和蛋白质分析的血液检测似乎能够以相对较高的特异性检测相当一部分AA患者。需要进行大规模的前瞻性研究，以确定这种方法是否可以增加目前用于筛查结肠恶性病变前患者的选择。

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A Blood-Based Assay for Detection of Patients with Advanced Adenomas.

Significance: Blood-based screening for colorectal cancer could improve testing uptake and outcomes. We propose novel methods to detect AAs in plasma using cfDNA fragmentation patterns, cancer-associated proteins, and aneuploidy with high specificity. Larger studies are needed to validate clinical utility.

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Cancer research communications

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