应用脑脊液mNGS-CNV分析辅助诊断合并脑积水的脑膜癌病1例报告
Application of auxiliary cerebrospinal fluid mNGS-CNV analysis in the diagnosis of meningeal carcinomatosis with hydrocephalus:A case report
李畅 1殷翔 1孙镱华 1罗天飞 1金铮 2冯加纯 1崔俐1
作者信息
- 1. 吉林大学第一医院神经内科,吉林 长春 130021
- 2. 吉林大学第一医院神经外科,吉林 长春 130021
- 折叠
摘要
本文报道1例脑膜癌病患者的诊疗过程,患者老年男性,慢性病程,进行性加重,主要临床表现为进行性加重的头痛、恶心、呕吐30 d,加重9 d.头部影像学提示脑积水、脑室扩张,对脑脊液进行病原宏基因组二代测序(mNGS)结合人源序列的染色体拷贝数变异(CNV)分析,结果提示病原检测阴性,而人源序列中存在异常非整倍体,高度提示恶性肿瘤;后给予患者脑室留置Ommaya囊,反复送检脑脊液细胞学检测数次提示异型细胞;根据临床表现、脑脊液细胞学以及拷贝数变异分析结果,确诊脑膜癌病.提示mNGS-CNV分析对于诊断脑膜癌病具有重要意义.希望本例患者诊疗过程的梳理,可为脑膜癌病的诊断和治疗等提供参考.
Abstract
This article reports the diagnosis and treatment process of a patient with meningeal carcinomatosi.An el-derly male presented with 30 days of headaches,nausea,and vomiting,which progressively worsened over the past 9 days.Cranial imaging indicated hydrocephalus and ventricular dilatation.Metagenomic next-generation sequencing,com-bined with chromosomal copy number variation(CNV)analysis of human sequences in the cerebrospinal fluid(CSF),re-vealed the absence of pathogens but the presence of abnormal aneuploidy in human sequences,strongly suggesting malig-nancy.Subsequently,an Ommaya reservoir was placed in the patient's ventricles,and repeated CSF cytology examina-tions revealed atypical cells.Based on clinical presentation,CSF cytology,and CNV analysis,the diagnosis of meningeal carcinomatosis was confirmed.mNGS-CNV analysis is of great significance for the diagnosis of meningeal carcinomatosis.By reviewing the diagnosis and treatment process of this patient,reference can be provided for the diagnosis and treatment of meningeal carcinomatosi.
关键词
脑膜癌病/宏基因组二代测序/拷贝数变异/脑积水/Ommaya囊Key words
Meningeal carcinomatosis/Metagenomic next-generation sequencing/Copy number variation/Hydrocephalus/Ommaya reservoir引用本文复制引用
基金项目
国家自然科学基金(82071351)
国家自然科学基金(82371371)
出版年
2024
国家科技期刊平台
NSTL
万方数据