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Genomic and epigenetic instability in chordoma: current insights

Authors Feng Y, Shen J, Hornicek F, Duan Z

Received 13 February 2014

Accepted for publication 8 April 2014

Published 30 May 2014 Volume 2014:4 Pages 67—78


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Video abstract presented by Jacson K Shen.

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Yong Feng,1,2 Jacson K Shen,1,3 Francis J Hornicek,1,3 Zhenfeng Duan1,3

1Department of Orthopedic Surgery, Massachusetts General Hospital, Boston, MA, USA; 2Department of Orthopedic Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People’s Republic of China; 3Sarcoma Biology Laboratory, Center for Sarcoma and Connective Tissue Oncology, Massachusetts General Hospital, Boston, MA, USA

Abstract: Chordoma is a malignant bone tumor, which currently can only be defined by histologic 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 deoxyribonucleic acid (DNA) sequencing to determine the gene mutation, microarray to access 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.

Keywords: chordoma, chromosomal alterations, sequencing, miRNA, DNA methylation

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