Distinctive MicroRNA Profiles in Serum of Patients with Neurofibromatosis Type 2: A Bioinformatic Exploratory Study

The objective of this study was to explore serum microRNA (miRNA) profile characteristic of patients with neurofibromatosis type 2 (NF2), including both sporadic and familial cases, by comprehensive analysis of miRNA expression using next-generation sequencing.

Nine patients with NF2 were included in this study. In addition, 7 patients with unilateral acoustic neuroma without a family history of NF2 were invited to participate as the control cohort in the study. Total RNA including the small RNAs was extracted from serum. We comprehensively analyzed the expression of miRNAs using next-generation sequencing, and differentially expressed miRNAs (DEMs) were analyzed. Biological implications of DEMs were analyzed by Gene Ontology/Kyoto Encyclopedia of Genes and Genomes analysis.

Distinctive miRNA profiles (16 miRNAs were significantly downregulated, and 4 miRNAs were significantly upregulated) were observed in the comparison between all patients with NF2 and controls. In the NF2 subgroup analysis, 23 miRNAs (including hsa-miR-let7b, hsa-miR-let7c, and hsa-miR-200a) and 7 miRNAs (including hsa-miR-193b) were identified as specifically downregulated miRNAs in sporadic NF2 and familial NF2, respectively. Moreover, hsa-miR-193a and hsa-miR-504 were identified as specifically upregulated miRNAs in sporadic NF2 and familial NF2, respectively. Gene Ontology/Kyoto Encyclopedia of Genes and Genomes analysis showed that identified DEMs were mainly enriched in gene silencing by miRNA, miRNAs in cancer, and regulation of angiogenesis.

We were able to identify distinctive miRNA profiles in the serum of patients with NF2, including both sporadic and familial cases, by comprehensive miRNA expression analysis using miRNA sequencing.