Which are the causes of Chordoma?

Chordoma is a rare, slow-growing type of cancer that arises from remnants of the notochord, a flexible rod-like structure present during fetal development. While the exact cause is largely unknown, Chordoma is primarily linked to genetic predispositions, specifically the activation of the brachyury (T) gene, rather than environmental triggers or lifestyle factors.

What causes Chordoma to develop?

The development of Chordoma begins when cells left over from the notochord—which usually disappear before birth—begin to grow uncontrollably. These cells can persist in the bones of the skull base or the spine. In most cases, Chordoma occurs sporadically, meaning it happens by chance without a clear external cause or inherited pattern. Research is ongoing to determine why these specific cells reactivate later in life.

Is there a genetic component to Chordoma?

Genetics play a critical role in the pathophysiology of Chordoma. The most significant finding is the duplication or overexpression of the brachyury (T) gene. This gene is vital for normal embryonic development, but when it is overactive in adults, it drives the formation of Chordoma tumors. While most cases are not inherited, rare familial forms of Chordoma have been linked to germline duplications of this gene.

Are there known environmental or lifestyle risk factors?

Unlike many other cancers, there is no evidence that environmental toxins, diet, or lifestyle choices cause Chordoma. Because it is a developmental anomaly, it is not considered a preventable disease. Current clinical research focuses on the following areas:

• Identifying molecular pathways that can be targeted by new drug therapies.


• Studying the role of the T-box transcription factor in tumor cell survival.


• Analyzing the genomic landscape of the 34 patients currently in the DiseaseMaps community to better understand individual variations.


• Investigating why Chordoma has a higher incidence in males than females, typically appearing between the ages of 40 and 60.

Next steps

• Consult with a neuro-oncologist or a specialist experienced in skull base tumors.


• Join the DiseaseMaps community to connect with other patients and share experiences.


• Explore clinical trials via the Chordoma Foundation to access emerging targeted therapies.

Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD) - Chordoma


• Orphanet: Portal for rare diseases and orphan drugs


• The Chordoma Foundation: Understanding the science and research


• OMIM (Online Mendelian Inheritance in Man): Brachyury gene and chordoma susceptibility