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评估新鲜组织在结肠直肠癌分子诊断中的实用性

Tadeusz Kałużewski¹, Szymon Wcisło², Kinga Sałacińska¹

¹Department of Genetics, Polish Mother's Memorial Hospital Research Institute, 93-338 Lodz, Poland.

|November 27, 2025

概括

新鲜的瘤组织为结直肠癌提供了高质量的分子诊断,改善了周转时间,避免了FFPE样本中常见的DNA降解. 这种方法提高了精确瘤学,但需要组织学确认以避免诊断风险.

科学领域:

在瘤学瘤学.
分子诊断学分子诊断
基因组学就是基因组学.

背景情况:

结直肠癌的精确瘤学依赖于分子诊断.
固定在形式素,嵌入式 (FFPE) 组织往往产生退化的DNA,损害了测序质量.
新鲜的,手术内收集的瘤组织为分子分析提供了替代来源.

研究的目的:

评估使用新鲜结直肠瘤组织进行下一代测序 (NGS) 的可行性和有效性.
为了评估测序数据质量和新鲜FFPE组织与FFPE组织的突变资料.
探索新鲜组织的潜力,以改善结直肠癌的分子诊断.

主要方法:

在手术期间从24名结直肠癌患者收集了新鲜的瘤组织.
在新鲜组织样本上使用定制基因面板进行NGS.
分析了测序指标,突变概况和与临床数据相关的发现.

主要成果:

所有新鲜组织样本都产生了高质量的测序数据.
在87.5%的样本中发现了致癌变体,通常在APC,TP53和KRAS中.
三例病例缺乏可检测的突变,可能是由于瘤细胞性较低或面板范围之外的变化.

结论:

新鲜组织是结直肠癌分子诊断的可行,高质量的来源.
使用新鲜组织可以减少周转时间,并消除甲素诱导的DNA工件.
仅仅是宏观评估是不够的;组织学确认对于准确的诊断至关重要.

关键词:

结肠直肠癌是什么意思新鲜的新鲜组织组织.分子诊断分子诊断分子诊断这是下一代测序.致癌变异的致癌变异

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