[Value of metagenomic next-generation sequencing in children with hemophagocytic syndrome with central nervous system involvement]

Zhongguo Dang Dai Er Ke Za Zhi. 2022 Nov 15;24(11):1226-1230. doi: 10.7499/j.issn.1008-8830.2206118.
[Article in Chinese]

Abstract
in English, Chinese

Objectives: To study the value of metagenomic next-generation sequencing (mNGS) in detecting intracranial Epstein-Barr virus (EBV) infection in children with hemophagocytic syndrome (HPS) with central nervous system involvement.

Methods: A retrospective analysis was performed for the cerebrospinal fluid mNGS results of 30 HPS children with central nervous system involvement, which were compared with the results of cerebrospinal fluid EBV-DNA detection and serum EBV antibody profile. The change in serum EBV-DNA copy number after treatment was used to evaluate the efficacy of targeted therapy.

Results: The positive rate of EBV in cerebrospinal fluid determined by mNGS was significantly higher than that of EBV-DNA in cerebrospinal fluid (100% vs 10%, P<0.001) and had no significant difference from the positive rate of serum EBV antibody profile (100% vs 93%, P>0.05). The median number of sequences determined by mNGS was 2 400, and serum EBV-DNA copy number before treatment was moderately positively correlated with the number of EBV sequences (rs=0.693, P<0.001). The multiple linear regression analysis showed that the number of sequences determined by mNGS in cerebrospinal fluid increased with the increase in serum EBV-DNA copy number before treatment (P<0.05).

Conclusions: EBV-associated HPS often results in EBV-infected viral encephalitis, and mNGS can significantly increase the detection rate of EBV in cerebrospinal fluid, which may help with clinical diagnosis.

目的: 探究宏基因组二代测序（metagenomic next-generation sequencing，mNGS）技术检测伴有中枢神经系统受累的噬血细胞综合征患儿颅内EB病毒（Epstein-Barr virus，EBV）感染的应用价值及临床意义。方法: 回顾性分析30例伴有中枢神经系统受累的噬血细胞综合征患儿的脑脊液mNGS结果，与脑脊液EBV-DNA定性检测、血清EBV抗体谱检测结果进行比较，以治疗前后血清EBV-DNA拷贝数变化反映针对性治疗效果。结果: 脑脊液mNGS EBV检测阳性率为100%（30/30），高于脑脊液EBV-DNA定性检测阳性率（10%，3/30；P<0.001），与血清EBV抗体谱检测阳性率（93%，28/30）比较差异无统计学意义（P>0.05）。中位mNGS EBV检出序列数为2 400，治疗前血清EBV-DNA拷贝数与EBV检出序列数呈中度正相关（rs=0.693，P<0.001）。多元线性回归分析结果显示，治疗前血清EBV-DNA拷贝数越高，脑脊液mNGS EBV检出序列数越高（P<0.05）。结论: EBV相关噬血细胞综合征容易诱发EBV感染引起的病毒性脑炎，mNGS可以显著提高脑脊液EBV检测的阳性率，协助临床诊断。.

Keywords: Child; Epstein-Barr virus; Hemophagocytic syndrome; Metagenomic next-generation sequencing.

Publication types

  • English Abstract

MeSH terms

  • Central Nervous System
  • Child
  • Epstein-Barr Virus Infections* / complications
  • Herpesvirus 4, Human / genetics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Lymphohistiocytosis, Hemophagocytic* / diagnosis
  • Lymphohistiocytosis, Hemophagocytic* / genetics
  • Retrospective Studies