Application of auxiliary cerebrospinal fluid mNGS-CNV analysis in the diagnosis of meningeal carcinomatosis with hydrocephalus:A case report
10.19845/j.cnki.zfysjjbzz.2024.0144
- VernacularTitle: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
- Author:
Chang LI
1
;
Xiang YIN
;
Yihua SUN
Author Information
1. 吉林大学第一医院神经内科,吉林 长春 130021
- Keywords:
Meningeal carcinomatosis;
Metagenomic next-generation sequencing;
Copy number variation;
Hydrocephalus;
Ommaya reservoir
- From:
Journal of Apoplexy and Nervous Diseases
2024;41(8):749-752
- CountryChina
- Language:Chinese
-
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.
