Introduction: Chordomas are malignant bone tumors arising from notochordal remnants. They most commonly occur at the sacrum, skull base, and spine. The gold standard treatment for these tumors is a combination of en-bloc resection and radiation therapy.
Areas covered: Recent genomic studies have identified duplication of the gene brachyury as a major susceptibility mutation in familial chordomas. Studies on sporadic chordomas have identified several tumor markers, using microRNAs and Comparative Genome Hybridization. In this article, we highlight current advances in research on the molecular characterization of chordomas.
Expert opinion: Scientific advances have allowed for the identification of numerous tumor markers involved in chordoma pathogenesis. In the future, chordoma cell lines will be produced that silence or over-express these tumor markers. As we increase our understanding of the mechanism of chordoma tumor proliferation, we can expect the development of targeted drug therapies.