Detection and discrimination of intracranial tumors using plasma cell-free DNA methylomes.

Detection and discrimination of intracranial tumors using plasma cell-free DNA methylomes.
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DOI:
10.1038/s41591-020-0932-2
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发表时间:
2020-07
期刊:
影响因子:
82.9
通讯作者:
De Carvalho DD
De Carvalho DD
中科院分区:
医学1区
文献类型:
--
作者:
Nassiri F;Chakravarthy A;Feng S;Shen SY;Nejad R;Zuccato JA;Voisin MR;Patil V;Horbinski C;Aldape K;Zadeh G;De Carvalho DD

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颅内肿瘤的早期诊断依赖于通过侵入性手术获得的组织标本。非侵入性诊断方法提供了避免手术和减轻患者不必要风险的机会。在本研究中,我们表明,血浆中的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共享起源细胞谱系的常见原发性颅内肿瘤,并且使用标准护理成像进行区分可能具有挑战性。
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.
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