宏基因组二代测序拷贝数变异分析与ctDNA联合应用诊断脑转移瘤1例  

Diagnosis of brain metastasis by copy number variation analysis and ctDNA based on cerebrospinal fluid metagenome next-generation sequencing:a case report

作　　者：江佳佳 杨伊 尹梓曈 赵辉[1] 霍颖浩[1] 卜晖[1] JIANG Jiajia;YANG Yi;YIN Zitong;ZHAO Hui;HUO Yin-hao;BU Hui(The second Hospital of Hebei Medical University,Shijiazhuang 050000)

机构地区：[1]河北医科大学第二医院神经内科,石家庄050000

出　　处：《中国神经精神疾病杂志》2023年第3期155-159,共5页Chinese Journal of Nervous and Mental Diseases

摘　　要：报告1例68岁男性,以头晕、走路不稳起病,起初考虑脑囊虫病,送检脑脊液宏基因组二代测序技术(metagenome next-generation sequencing,mNGS)未检测到脑囊虫,但检测到染色体发生重复改变,表明存在恶性肿瘤DNA,进一步利用循环肿瘤DNA(circulating tumor DNA,ctDNA)协助诊断为表皮生长因子受体(epidermal growth factor receptor,EGFR)阳性非小细胞肺癌脑转移瘤。我们联合应用mNGS双组学检测及ctDNA检测,结合全身PET-CT检查,成功诊断了1例脑转移瘤,并指导临床行肿瘤靶向治疗,患者症状明显好转,脑转移瘤数量明显减少。此技术为患者提供了一种新的非侵入性的肿瘤诊断方法,本病例为探索脑脊液mNGS双组学检测提供了参考案例。We here report a 68-year-old male with dizziness and gait instability who was initially diagnosed with cerebral cysticercosis.Cerebral cysticercosis was considered initially.No cysticercosis was detected in metagenome next-generation sequencing(mNGS)of cerebrospinal fluid,but repeated chromosomal changes were detected,indicating the presence of malignant tumor DNA.Further,circulating tumor DNA(ctDNA)was used to help the diagnosis of brain metastases from epidermal growth factor receptor(EGFR)positive non-small cell lung cancer(NSCLC).We successfully diagnosed a case of brain metastases by using copy number variation(CNV)analysis based on mNGS and ctDNA detection,and guided the clinical tumor targeting therapy.The patient's symptoms were significantly improved and the number of brain metastases was significantly reduced.This technique provides a new non-invasive method for tumor diagnosis and a reference case for exploring CNV analysis based on mNGS in cerebrospinal fluid(CSF).

关 键 词：循环肿瘤DNA 宏基因组二代测序 染色体拷贝数变异 脑转移瘤 靶向治疗 

分 类 号：R651[医药卫生—外科学]