Plasma cell-free DNA methylation combined with tumor mutation detection in prognostic prediction of patients with non-small cell lung cancer (NSCLC)
Plasma cell-free DNA methylation combined with tumor mutation detection in prognostic prediction of patients with non-small cell lung cancer (NSCLC)
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DOI：
10.1097/md.0000000000020431
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发表时间：
2020-06-01
期刊：
影响因子：
1.6
通讯作者：
Shi, Ke
中科院分区：
文献类型：
--
作者：
Guo, Dan;Yang, Liang;Shi, Ke
背景：肺癌是最常见的恶性程度较高的恶性肿瘤之一，是世界范围内预后较差的毁灭性疾病。非小细胞肺癌（non-small cell lung cancer，NSCLC）患者的预后预测仍然是一个挑战。材料和方法：该队列由2014年6月1日至2018年6月30日确定的64例连续NSCLC患者组成。收集液体活检样本。通过包括整个体细胞、编码、测序长度上的所有取代和插入缺失来计算基因组突变DNA。使用SPSS软件进行统计学评价。结果：在所有64例基线循环DNA可用的患者中成功测定了总ctDNA的量。ctDNA浓度范围为每毫升4000至3，562，000基因组当量。在大多数对治疗有反应的患者中，治疗诱导了癌症特异性标志物的显著降低，而甲基化DNA表现出有利的预测效率，无论反应状态如何。ctDNA突变和甲基化DNA减少的患者总生存率较好（P <0.05）。基因型和甲基化DNA联合降低预测NSCLC患者的总生存率具有较高的可靠性。结论：我们在非小细胞肺癌患者血浆中检测到肿瘤突变和甲基化DNA。基因型和甲基化DNA联合降低是影响NSCLC患者预后的独立危险因素。同时，它具有良好的预测价值，有望成为NSCLC患者的一种新的生物标志物。
Background: Lung Cancer is one of the most common cancers with high degree of malignancy, is a devastating disease with a poor prognosis worldwide. prognostic prediction for patients with non small-cell lung cancer (NSCLC) is still challenge. Material and methods: The cohort consisted of 64 consecutive patients with NSCLC identified from June1, 2014, to June 30, 2018. Liquid biopsy samples were collected. Genomic mutation DNA was calculated by including all substitutions and indels over the entire somatic, coding, sequencing length. statistical evaluations were carried out using SPSS software. Results: Quantity of total ctDNA was successfully determined in all 64 patients from whom baseline circulating DNA was available. ctDNA concentration ranged from 4000 to 3,562,000 genome equivalents per milliliter. Treatments induced a significant decrease in cancer specific markers in most patients with response to treatments, while the methylated DNA demonstrated favorable prediction efficiency regardless of the response status. Patients with ctDNA mutation and methylated DNA decreasing have favorable overall survival (P < .05). combination of genetic and methylated DNA decreasing had high reliability in predicting overall survival of patients with NSCLC. Conclusions: We have detected both tumor mutations and methylated DNA in plasma of patients with NSCLC. Combined genetic and methylated DNA decreasing after treatment was an independent risk factor for prognosis of patients with NSCLC. Meanwhile, it had favorable predict value and had potential to be defined as a novel biomarker for patients with NSCLC.