摘要
目的应用二代测序对比髓母细胞瘤肿瘤组织和脑脊液循环肿瘤DNA的基因分析结果,确定脑脊液液态活检的可行性。方法针对2019年4-12月北京天坛医院小儿神经外科收治的6例术前依据头颅核磁影像学诊断并术后病理确诊为髓母细胞瘤的患儿,术中留取脑脊液标本及外周血,以及同期于我院住院初治、影像明确脊髓播散的髓母细胞瘤患儿1例,术后3~4周行腰椎穿刺留取脑脊液标本同时留取外周血标本,应用二代测序对比髓母细胞瘤肿瘤组织和脑脊液循环肿瘤DNA的基因分析结果。结果3例提取质控不合格,4例患儿脑脊液循环肿瘤DNA检测阳性率75%。脑脊液检测出KMT2D、KMT2C、TP53、NF1、PIK3CA、SMARCA4、KMD5A等髓母细胞瘤相关基因突变,组织检测出KMT2D、SMARCA4等髓母细胞瘤相关基因突变。结论脑脊液循环肿瘤DNA检测脑脊液上清可能较组织检出更丰富的基因突变。
Objective To investigate the feasibility of liquid biopsy in children with medulloblastoma through detecting circulating tumor DNA(ctDNA)in Cerebrospinal Fluid(CSF).Methods Six patients diagnosed as medulloblastoma pre-operation by Magnetic Resonance Imaging(MRI)from Beijing Tiantan Hospital of Capital Medical University,and one patientreceived tumor dissemination from Beijing Shijitan Hospital of Capital Medical University were recruited in this prospective study between April 2019 and Dec 2019.CSF was collected by lumbar puncture 3~4 weeks after surgery.The tumor tissue and peripheral blood were collected at the same time.In order to acquire medulloblastoma associated alterations,the DNA sequencing was applied in tissue,blood and CSF of medulloblastoma cases based on next-generation sequencing(NGS)technology.Results The quality control of ctDNA extraction was unqualified in three cases.For the remaining 4 cases,the detection rate of ctDNA in CSF was 75%.Medulloblastoma related gene mutations such as KMT2D,KMT2C,TP53,NF1,PIK3CA,SMARCA4 and KMD5A were detected in CSF,but only KMT2D and SMARCA4 were detected in tumor tissues.Conclusion It is feasible to detect ctDNA in CSF in medulloblastoma.Furthermore,there were more detectable medulloblastomarelated alterations in CSF than those in tumor tissue.
作者
孙艳玲
刘晶晶
李苗
任思其
刘妍
张金
李舒婷
龚小军
王圆
杜淑旭
武万水
孙黎明
田永吉
SUN Yanling;LIU Jingjing;LI Miao;REN Siqi;LIU Yan;ZHANG Jin;LI Shuting;GONG Xiaojun;WANG Yuan;DU Shuxu;WU Wanshui;SUN Liming;TIAN Yongji(Pediatric Department,Bijing Shijitan Hospisal Affiliated to the Capital Medical University,Beijing 100038,China;不详)
出处
《实用医学杂志》
CAS
北大核心
2021年第3期390-394,共5页
The Journal of Practical Medicine
基金
北京市医院管理中心儿科学科协同发展中心专项经费资助(编号:XTYB201816)。
