Detection of circulating tumor DNA in patients with osteosarcoma.
Detection of circulating tumor DNA in patients with osteosarcoma.
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DOI：
10.18632/oncotarget.24268
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发表时间：
2018-02-27
期刊：
影响因子：
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通讯作者：
Weiser, Daniel A
中科院分区：
文献类型：
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作者：
Barris, David M;Weiner, Shoshana B;Weiser, Daniel A
鉴定和定量血浆来源的循环肿瘤DNA(CtDNA)中的体细胞变化作为一种非侵入性的、经济有效的癌症患者疾病监测方法，特别是在评估治疗反应和监测疾病复发方面正受到越来越多的关注。据我们所知，骨肉瘤中ctDNA的遗传分析尚未被研究。为了确定在ctDNA中是否可以检测到体细胞改变，并可能应用于这种疾病的患者处理，我们收集了儿童、青少年和年轻成人骨肉瘤患者的生殖系、肿瘤和连续血浆样本，并使用靶向下一代测序(NGS)来识别骨肉瘤中常见的7个基因的体细胞单核苷酸变异(SNV)、插入和缺失(INDELs)以及结构变异(SV)。我们证明，通过比较肿瘤胚系对确定的患者特有的体细胞变化可以在骨肉瘤患者的无细胞DNA中被检测和量化。
Identification and quantification of somatic alterations in plasma-derived, circulating tumor DNA (ctDNA) is gaining traction as a non-invasive and cost effective method of disease monitoring in cancer patients, particularly to evaluate response to treatment and monitor for disease recurrence. To our knowledge, genetic analysis of ctDNA in osteosarcoma has not yet been studied. To determine whether somatic alterations can be detected in ctDNA and perhaps applied to patient management in this disease, we collected germline, tumor, and serial plasma samples from pediatric, adolescent, and young adult patients with osteosarcoma and used targeted Next Generation Sequencing (NGS) to identify somatic single nucleotide variants (SNV), insertions and deletions (INDELS), and structural variants (SV) in 7 genes commonly mutated in osteosarcoma. We demonstrate that patient-specific somatic alterations identified through comparison of tumor-germline pairs can be detected and quantified in cell-free DNA of osteosarcoma patients.