对状细胞癌的基于甲基化的跨平台原点分类
Allen W Zhang1, Vahid Akbari2, Andrew Galbraith2
1Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.
概括
一个新的甲基化分类器,SquaMOS,准确地预测了状细胞癌 (SCC) 的原点,包括转移. 这种工具有助于区分初级SCC和转移,这对于有效的临床管理和治疗策略至关重要.
科学领域:
- 癌症学
- 基因组学
- 分子病理学
背景情况:
- 状细胞癌 (SCC) 是常见的,并且可以广泛转移.
- 由于特征重叠,区分初级SCC与转移在临床上具有挑战性.
- 准确的来源地确定对于适当的患者治疗至关重要.
研究的目的:
- 开发和验证基于甲基化的分类器 (SquaMOS),用于预测状癌的起源地.
- 在不同数据源中评估SquaMOS对原发性和转移性瘤的准确性.
- 评估SquaMOS对低深度纳米孔测序数据的适用性.
主要方法:
- 使用1062个初级SCC和尿癌的阵列基甲基化数据开发了SquaMOS.
- 在内部 (n=458) 和外部 (n=78) 主要瘤数据集上测试SquaMOS.
- 在转移性瘤 (n=51) 和浅纳米孔测序数据 (n=36) 上验证了SquaMOS的性能.
主要成果:
- 在预测原发瘤的位置方面,SquaMOS的准确度很高 (96. 1% 内在, 97. 4% 外在).
- 在转移性SCC中,该分类器的准确性为96. 1%.
- 在低深度的纳米孔测序数据上,SquaMOS的准确度为91. 7%,高可靠性预测的准确度为100%.
结论:
- SquaMOS是基于甲基化的高精度分类器,用于确定状癌的原点.
- 该分类器对原发性和转移性瘤具有强大的性能,并可转移到快速测序技术.
- 对于SCC患者来说,SquaMOS是一个有前途的临床工具.
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