Somatic Copy Number Alterations: Gene and Protein Expression Correlates in NF1-Associated Malignant Peripheral Nerve Sheath Tumors

Abstract

A variety of different somatic copy number alterations (SCNAs) have been reported in NF1-associated malignant peripheral nerve sheath tumours (MPNSTs). Indeed, SCNA analysis, based upon different platforms, is beginning to identify specific regulatory pathways associated with MPNSTs, thereby providing us with new potential targets for therapeutic intervention. Extensive studies have also been undertaken on gene expression in NF1-associated tumours but not yet in parallel with SCNA analysis. Although in some cancers, SCNAs are associated with the altered regulation of genes, an integrative study of SCNAs and gene expression is currently lacking in the context of NF1-associated tumours. It is to be expected that such an integrative study will aid in the identification not only of driver genes associated with NF1 tumourigenesis but also cancer-specific biological pathways and hence potential therapeutic targets. It is envisaged that a combination of next generation sequencing and powerful new bioinformatic tools will provide new insights into how high SCNA affects gene expression and the biological pathways.