Genomic and epigenetic instability in chordoma: current insights

Abstract

Chordoma is a malignant bone tumor, which currently can only be defined by his-tologic and immunohistochemical criteria. There are no prognostic biomarkers to predict the clinical outcome or response to treatment yet. Currently, chordoma pathogenesis is very poorly understood; however, recent large-scale genetic and epigenetic studies have identified some of the underlying mechanisms and pathways that may contribute to the disease. In this review, we summarize the most recent findings in the field of chordoma genomics and epigenomics, from comparative genomic hybridization to evaluate chromosomal alteration, large-scale deoxyribo-nucleic acid (DNA) sequencing to determine the gene mutation, microarray to assess messenger ribonucleic acid (RNA) and microRNA gene expression, and DNA-methylation profiling. These studies may also hold valuable clinical potential in the management of chordoma.