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

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。

This article reports the diagnosis and treatment process of a patient with meningeal carcinomatosi.An elderly 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,combined with chromosomal copy number variation(CNV)analysis of human sequences in the cerebrospinal fluid(CSF),revealed the absence of pathogens but the presence of abnormal aneuploidy in human sequences,strongly suggesting malignancy.Subsequently,an Ommaya reservoir was placed in the patient's ventricles,and repeated CSF cytology examinations 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.