Disease Directory Chordoma
Oncology

Chordoma

Also known as: sacrococcygeal chordoma, clival chordoma, brachyury/T gene tumor

Prevalence

1 in 1,000,000 (approximately 300 new cases/year in the USA)

Onset

Adult (median age 50s; clival tumours present earlier)

Type

Sporadic; rare familial cases with TBXT duplication

Gene

TBXT (T gene)

About Chordoma

Chordoma is a rare, slow-growing but locally aggressive malignant bone tumour arising from remnants of the embryonic notochord and occurring predominantly at the skull base (clivus), mobile spine, and sacrococcygeal region. The transcription factor brachyury (encoded by TBXT) is a specific and sensitive diagnostic marker overexpressed in virtually all chordomas, and germline duplication of TBXT is associated with familial predisposition. Despite its slow growth, chordoma is characterised by high rates of local recurrence after surgery, resistance to conventional radiotherapy doses, and a paucity of effective systemic therapies.

Common Clinical Features

Sacrococcygeal pain: dull, progressive lower back or tailbone pain, often present for years before diagnosis Cranial nerve palsies from clival tumours: diplopia (CN VI palsy most common), facial numbness, or dysphagia Bowel and bladder dysfunction from sacral nerve root compression Motor weakness or myelopathy from spinal cord compression by vertebral chordomas Nasal obstruction, epistaxis, or headache from large clival tumours extending into the nasopharynx Palpable presacral or posterior pharyngeal mass on examination Distant metastases to lung, bone, liver, and lymph nodes in advanced disease

Clinical Trial Eligibility Tips

What to know before applying to Chordoma trials.

Brachyury (TBXT) immunohistochemistry is the diagnostic standard — confirm pathology report documents positive brachyury staining to satisfy most trial eligibility requirements.

Prior treatment history (surgery and proton beam or carbon ion radiotherapy) significantly affects eligibility; document the number of prior resections, radiation doses, and fields treated.

Molecular profiling for targetable alterations (CDKN2A/B deletion, PI3K pathway, receptor tyrosine kinase expression) is increasingly required for biomarker-selected trials — request comprehensive tumour genomic profiling if not already performed.

Patient Resources

Patient Organization

Chordoma Foundation

Visit website ↗

Natural History Registry

Chordoma Foundation Patient Registry

Join registry ↗

Orphanet

European reference resource for rare diseases (ORPHA:178)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Chordoma trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Chordoma. Updated daily.

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