中风与神经疾病杂志2024，Vol.41Issue(8)：749-752,4.DOI:10.19845/j.cnki.zfysjjbzz.2024.0144
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
摘要
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分类
医药卫生引用本文复制引用
李畅,殷翔,孙镱华,罗天飞,金铮,冯加纯,崔俐..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[J].中风与神经疾病杂志,2024,41(8):749-752,4.基金项目
国家自然科学基金(82071351,82371371) （82071351,82371371）
