Department of Pediatrics, Beijing Shijitan Hospital, Capital Medical University, 10E. Tieyi Road, Yangfangdian, Haidian District, Beijing, China.
Department of Pediatric Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, 119E. South Fourth Ring West Road, Fengtai District, Beijing, China.
Sci Rep. 2021 Mar 11;11(1):5638. doi: 10.1038/s41598-021-85178-6.
Medulloblastoma (MB) is the most common type of brain malignancy in children. Molecular profiling has become an important component to select patients for therapeutic approaches, allowing for personalized therapy. In this study, we successfully identified detectable levels of tumor-derived cell-free DNA (cfDNA) in cerebrospinal fluid (CSF) samples of patients with MB. Furthermore, cfDNA from CSF can interrogate for tumor-associated molecular clues. MB-associated alterations from CSF, tumor, and post-chemotherapy plasma were compared by deep sequencing on next-generation sequencing platform. Shared alterations exist between CSF and matched tumor tissues. More alternations were detected in circulating tumor DNA from CSF than those in genomic DNA from primary tumor. It was feasible to detect MB-associated mutations in plasma of patients treated with chemotherapy. Collectively, CSF supernatant can be used to monitor genomic alterations, as a superior technique as long as tumor-derived cfDNA can be isolated from CSF successfully.
髓母细胞瘤（MB）是儿童中最常见的脑恶性肿瘤类型。分子分析已成为为治疗方法选择患者的重要组成部分，允许进行个性化治疗。在这项研究中，我们成功地在 MB 患者的脑脊液（CSF）样本中检测到了可检测水平的肿瘤衍生游离 DNA（cfDNA）。此外，CSF 中的 cfDNA 可以检测肿瘤相关的分子线索。通过下一代测序平台上的深度测序比较了 CSF、肿瘤和化疗后血浆中的 MB 相关改变。CSF 和匹配的肿瘤组织之间存在共享改变。从 CSF 循环肿瘤 DNA 中检测到的改变比从原发性肿瘤基因组 DNA 中检测到的改变更多。在接受化疗的患者的血浆中检测到与 MB 相关的突变是可行的。总之，只要能够从 CSF 中成功分离出肿瘤衍生的 cfDNA，CSF 上清液就可以用于监测基因组改变，这是一种优越的技术。
