Chordoma

What it is

Overview

Chordoma is a rare, slow-growing malignant tumor that arises from remnants of the embryonic notochord — the precursor to the spine. It most commonly occurs at the skull base (35%), sacrum/coccyx (50%), and mobile spine (15%). Despite slow growth, chordoma is locally destructive, often invades critical structures, and has a high rate of local recurrence. Distant metastases occur in ~30–40% of patients over time.

Biology

How It Develops

Chordomas arise from notochordal remnants that persist along the axial skeleton. The transcription factor T (brachyury) is overexpressed in virtually all chordomas and is considered the master regulator. Germline duplication of the T gene is found in familial cases. CDKN2A deletion, PTEN loss, and PI3K pathway activation are common somatic alterations.

Warning signs

Symptoms

• —Neck pain or headaches (skull base chordoma)
• —Double vision or facial numbness (clivus chordoma)
• —Low back, tailbone, or buttock pain (sacral chordoma)
• —Bowel or bladder dysfunction (sacral chordoma)
• —Neurological symptoms depending on location

Detection

Diagnosis Methods

• —MRI (preferred for soft tissue extent)
• —CT scan (for bone destruction)
• —Biopsy with immunohistochemistry (brachyury staining)
• —PET scan for staging

Medical care

Treatment Options

• —Surgery (en bloc resection with wide margins — key prognostic factor)
• —Proton beam or carbon ion radiotherapy (high precision, high dose)
• —Conventional radiation therapy
• —No standard systemic therapy — clinical trials recommended
• —Imatinib (some activity in PDGFR-expressing chordomas)

Data

Statistics

Prevention

Risk Factors

• —Germline T gene duplication (familial cases)
• —No other established risk factors

Further reading

Resources