Chordoma

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(CC) Image: Hassan et al., 2008
MRI scan of a patient with a very pronounced clival chordoma.

A chordoma (also known as choroid meningioma, chordocarcinoma, chordoepithelioma, or notochordoma) is a malignant tumor arising from the embryonic remains of the notochord.[1]

Such malformations can occur anywhere in the bony tissue surrounding the spinal cord, though typically its mobile parts at the cranial or caudal end. The prevalence is about 1 in a million in the United States.

At least one susceptibility gene has been identified[2] but currently, no therapy is in sight, leaving affected patients with an average life expectancy of five to ten years after diagnosis.

(CC) Photo: Larizza et al., 2005
Different immunohistochemical markers of chondroma. Details to follow

References

  1. Anonymous (2024), Chordoma (English). Medical Subject Headings. U.S. National Library of Medicine.
  2. Yang XR, Ng D, Alcorta DA, Liebsch NJ, Sheridan E, Li S et al. (2009). "T (brachyury) gene duplication confers major susceptibility to familial chordoma". Nat Genet 41 (11): 1176-8. DOI:10.1038/ng.454. PMID 19801981. Research Blogging[e]
    Based on comparative genomic hybridization data from four affected families, variations in the 6q27 region of the human chromosome 6 were found to be correlated with chordoma, thus suggesting the T gene as a potential susceptibility gene for the disease.