使用游离血浆细胞 DNA 甲基组学检测和鉴别颅内肿瘤。
Detection and discrimination of intracranial tumors using plasma cell-free DNA methylomes.
机构信息
MacFeeters Hamilton Neuro-Oncology Program, Princess Margaret Cancer Centre, University Health Network and University of Toronto, Toronto, Ontario, Canada.
Division of Neurosurgery, Department of Surgery, University of Toronto, Toronto, Ontario, Canada.
出版信息
Nat Med. 2020 Jul;26(7):1044-1047. doi: 10.1038/s41591-020-0932-2. Epub 2020 Jun 22.
Definitive diagnosis of intracranial tumors relies on tissue specimens obtained by invasive surgery. Noninvasive diagnostic approaches provide an opportunity to avoid surgery and mitigate unnecessary risk to patients. In the present study, we show that DNA-methylation profiles from plasma reveal highly specific signatures to detect and accurately discriminate common primary intracranial tumors that share cell-of-origin lineages and can be challenging to distinguish using standard-of-care imaging.
颅内肿瘤的明确诊断依赖于通过有创手术获得的组织标本。非侵入性诊断方法为避免手术和减轻患者不必要的风险提供了机会。在本研究中，我们表明，来自血浆的 DNA 甲基化谱揭示了高度特异性的特征，可以检测和准确区分常见的原发性颅内肿瘤，这些肿瘤具有共同的起源细胞谱系，使用标准的影像学方法难以区分。
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