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

ZHANG Hai-Yang; TANG Mao-Ting; QING Lu; LI De-Yuan; QIAO Li-Na

doi:10.7499/j.issn.1008-8830.2206118

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Chinese Journal of Contemporary Pediatrics ›› 2022, Vol. 24 ›› Issue (11) : 1226-1230. DOI: 10.7499/j.issn.1008-8830.2206118

CLINICAL RESEARCH

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

ZHANG Hai-Yang, TANG Mao-Ting, QING Lu, LI De-Yuan, QIAO Li-Na

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Abstract

Objective 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 (r_s=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.

Key words

Hemophagocytic syndrome / Epstein-Barr virus / Metagenomic next-generation sequencing / Child

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ZHANG Hai-Yang, TANG Mao-Ting, QING Lu, LI De-Yuan, QIAO Li-Na. Value of metagenomic next-generation sequencing in children with hemophagocytic syndrome with central nervous system involvement[J]. Chinese Journal of Contemporary Pediatrics. 2022, 24(11): 1226-1230 https://doi.org/10.7499/j.issn.1008-8830.2206118

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