Diseases /
Chordoma
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Associated Genetic Biomarkers
Overview
NCI Definition: A malignant bone tumor arising from the remnants of the fetal notochord. Although it can occur at all ages, it is more frequently seen in middle-aged adults. The most frequent sites of involvement are the sacrococcygeal area, spheno-occipital area, and cervico-thoraco-lumbar spine. Microscopically, chordomas are composed of cells that form cords and lobules, separated by mucoid intercellular tissue. Some of the cells are large (physaliphorous) and have vacuolated cytoplasm and prominent vesicular nuclei. Other tumor cells are small with small nuclei without visible nucleoli. Chordomas tend to recur and may metastasize. The most common sites of metastasis are the skin and bone. [1]
Chordomas most frequently harbor alterations in CDKN2A, CDKN2B, SMARCB1, SETD2, and TP53 [2].
CDKN2A Loss, CDKN2B Loss, PIK3CA Mutation, MED12 Mutation, and ATM Mutation are the most common alterations in chordoma [2].
Clinical Trials
Significant Genes in Chordoma
Disease Details
References
1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].
2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.
3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.
