Department of Clinic Research Center, Affiliated Hospital of Nantong University, Nantong, Jiangsu, Peoples Republic of China.
Jiangsu Clinical Medicine Center of Tissue Engineering and Nerve Injury Repair and Department of Neurosurgery, Affiliated Hospital of Nantong University, Nantong, Jiangsu, Peoples Republic of China; Department of Clinic Research Center, Affiliated Hospital of Nantong University, Nantong, Jiangsu, Peoples Republic of China.
World Neurosurg. 2019 May;125:e424-e428. doi: 10.1016/j.wneu.2019.01.092. Epub 2019 Jan 29.
To analyze the plasma cell-free DNA (Cf-DNA) in glioma patients with high throughout sequencing for a novel non-invasive method for the early diagnosis and management of glioma.
Six patients with glioma were recruited from the Affiliated Hospital of Nantong University from June 2015 to September 2016. Their plasma samples were tested for Cf-DNA by whole exon sequencing and mutations were analyzed by bioinformatics.
After filtering the raw sequencing data of Cf-DNA, 33,173 mutations were obtained from 12,462 genes of which 442 genes and 655 mutation sites were identical to that in the Catalogue of Somatic Mutations in Cancer database. However, when we compared the Cf-DNA data with the glioma mutated loci in the Cancer Genome Alta database, only 4 mutations matched with the glioma sequences in the Cancer Genome Alta and did not correspond to that of the paired-tumor tissues.
There were some cancer-related somatic mutations in the Cf-DNA of glioma patients, but no identical mutations were found in the paired solid tumors. Therefore, plasma Cf-DNA mutations may not be a suitable marker for the detection of glioma.
通过高通量测序分析脑胶质瘤患者的血浆无细胞 DNA（Cf-DNA），为脑胶质瘤的早期诊断和治疗提供一种新的非侵入性方法。
选取 2015 年 6 月至 2016 年 9 月南通大学附属医院收治的脑胶质瘤患者 6 例，采用全外显子组测序检测其血浆 Cf-DNA，并通过生物信息学分析突变情况。
经过 Cf-DNA 原始测序数据过滤，从 12462 个基因中获得 33173 个突变，其中 442 个基因和 655 个突变位点与癌症体细胞突变目录数据库中的一致。然而，当我们将 Cf-DNA 数据与癌症基因组图谱数据库中的脑胶质瘤突变位点进行比较时，只有 4 个突变与癌症基因组图谱数据库中的脑胶质瘤序列相匹配，而与配对肿瘤组织不对应。
脑胶质瘤患者的 Cf-DNA 中存在一些与癌症相关的体细胞突变，但在配对的实体瘤中未发现相同的突变。因此，血浆 Cf-DNA 突变可能不是检测脑胶质瘤的合适标志物。
