Chordoma

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This blog is for informational purposes only and should not be taken as medical advice. Content is sourced from third parties, and we do not guarantee accuracy or accept any liability for its use. Always consult a qualified healthcare professional for medical guidance.

What is Chordoma?

Chordoma is a rare, slow-growing but locally aggressive bone cancer arising from notochord remnants, typically in the skull base (clivus, 35%), spine (sacrum/coccyx, 50%), or cervical/thoracic regions (15%). It’s malignant with high recurrence, metastasizing in 5-20% (lungs, bone). In 2025, ~300 US cases annually, median age 60, slightly more in men, classified as conventional (80%), chondroid, or dedifferentiated (aggressive).

Symptoms

Symptoms depend on location: skull base chordomas cause headaches, neck pain, double vision, facial numbness, swallowing/breathing difficulties, or cranial nerve deficits. Spinal chordomas cause back pain, weakness/numbness in limbs, bowel/bladder dysfunction, or sciatica. Sacral tumors may present with constipation, incontinence, or sexual dysfunction. Advanced cases cause fatigue or symptoms from metastases (cough, bone pain). Pain is often insidious, worsening over months.

Causes

Chordoma develops from embryonic notochord cells, with genetic mutations (e.g., brachyury gene duplication in 70-90%) driving growth. Risk factors include age (40-70 peak), male gender, and rare familial cases (T gene mutations). No strong environmental links, though radiation exposure may increase risk. In 2025, studies show immune evasion and PI3K pathway activation as key.

Diagnosis

Diagnosis uses MRI (preferred for soft tissue) or CT for bone involvement, showing lobulated masses with calcification. Biopsy (fine-needle or core) confirms physaliphorous cells (vacuolated). Molecular testing for brachyury expression aids confirmation. PET/CT assesses metabolism and metastases. In 2025, AI imaging and NGS improve diagnostic specificity.

Treatment

Surgery is primary (endoscopic endonasal for skull base, en bloc resection for spine), aiming for complete removal to reduce recurrence (50% rate). Radiation (proton beam or stereotactic) follows for margins or unresectable tumors, achieving 70% 5-year control. Chemotherapy has limited role, but targeted therapies (imatinib for PDGFRA) and immunotherapy trials (nivolumab) show 20% response. In 2025, brachyury vaccines and PI3K inhibitors are in trials.

Future Outlook

In 2025, 5-year survival is 78%, 10-year 40%, with recurrence main challenge. Multimodal therapy extends progression-free survival to 5-7 years. Research on vaccines, CAR-T, and radiosensitizers could raise 5-year survival to 85% by 2030, focusing on reducing morbidity from surgery/radiation.

Sources

The information for chordoma is drawn from Cleveland Clinic’s “Chordoma: What It Is, Types, Symptoms & Treatment” for understanding and symptoms; Mayo Clinic’s “Chordoma – Symptoms and causes” for causes; NORD’s “Chordoma – Symptoms, Causes, Treatment” for symptoms and treatment; Chordoma Foundation’s “Understanding chordoma” for symptoms; Chordoma Foundation EU’s “Chordoma at a glance” for incidence; PMC’s “Chordoma—Current Understanding and Modern Treatment” for treatment; Cancer Therapy Advisor’s “Chordoma | Diagnosis & Disease Information” for diagnosis; Chordoma Foundation’s “New diagnosis” for diagnostic methods; Bone Cancer Research Trust’s “Chordoma” for overview; Mayo Clinic’s “Chordoma – Diagnosis and treatment” for treatment.