Exploring the relationship between novel MSN exon mutations and altered expression of other cytoskeleton genes in archival FFPE meningioma tissues

Abstract

Meningioma, a prevalent brain tumor, can severely impact patients' health and quality of life. However, there is a scarcity of data on Ezrin/Radixin/Moesin (ERM) and the quantification of mutations in the Moesin gene. In an effort to bridge this knowledge gap, we undertook an extensive study to measure the expression of ERM genes in meningioma patients, with a concurrent assessment of mutations in the moesin gene. We analyzed the expression patterns of these genes in 50 formalin-fixed paraffin-embedded meningioma tissues, using the xylene method to deparaffinize the tissues and the TRIzol technique to isolate total RNA for qPCR expression analysis. Our results indicated that Ezrin and Radixin expression levels were significantly upregulated (p < 0.05), while Moesin expression was downregulated (p < 0.05). In addition, we analyzed Moesin exons 2–6 for mutations using sanger sequencing and identified 10 novel variants, including 5 missense, 3 synonymous, and 2 frameshift mutations. Our findings suggests that a potential role of ERM genes in meningioma pathogenesis, and our identification of MSN gene mutations may contribute to understanding their harmful or gain-of-function effects. These results offer new insights into the mechanisms underlying meningioma carcinogenesis, which may facilitate the development of targeted therapies in the future.