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- Corey M Gill, Mary Fowkes, and Raj K Shrivastava.
- Department of Neurosurgery, Mount Sinai Medical Center, Icahn School of Medicine at Mount Sinai, New York, New York.
- Neurosurgery. 2020 Feb 1; 86 (2): E118E123E118-E123.
AbstractChordomas are rare primary malignant tumors of the bones that occur along the skull base, spine, and sacrum. Long-term survival and neurological outcome continue to be challenging with continued low percentages of long-term survival. Recent studies have used genome, exome, transcriptome, and proteome sequencing to assess the mutational profile of chordomas. Most notably, Brachyury, or T-protein, has been shown to be an early mutational event in chordoma evolution. Clinically actionable mutations, including in the PI3K pathway, were identified. Preliminary evidence suggests that there may be mutational differences associated with primary tumor location. In this study, we review the therapeutic landscape of chordomas and discuss emerging targets in the genomic era.Copyright © 2019 by the Congress of Neurological Surgeons.
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