MalignantBone
Chordoma
Synonyms: Notochordal tumour (related entity: Benign notochordal cell tumour), Ecchondrosis physaliphora
Rare sacroma of the spine with a high recurrence rate
Quick Facts
Behaviour
Malignant
Category
Bone
Grade
Low
Synonyms
- Notochordal tumour (related entity: Benign notochordal cell tumour)
- Ecchondrosis physaliphora
Category
Bone
Behaviour
Malignant
Grade
Low
Gender
Male (2:1)
Tissue of Origin
Embryonic notochord remnant
Epidemiology
- Rare, 3-4% of primary bone tumours
- Peak incidence in 4th-7th decades
Clinical Features
- Sacrococcygeal: Low back pain, constipation, urinary symptoms, gluteal mass
- Clivus/skull base: cranial nerve palsies, headache
- Mobile spine: myelopathy, radiculopathy
- Slow-growing but locally destructive
Location
- Sacrum and coccyx (50%)
- Clivus/spheno-occipital region (35%)
- Cervical spine (C2 most common in mobile spine) (15%)
Imaging
- Midline lytic destructive lesion with soft tissue mass
- CT: calcifications within lesion
- MRI: High T2 signal (myxoid matrix), heterogeneous enhancement
- Sacral lesion: presacral soft tissue mass
Pathology
- Lobulated tumour with physaliferous (vacuolated) cells
- Myxoid intercellular matrix
- S100, brachyury (T gene) positive
- Three subtypes: classic, chondroid, dedifferentiated
Genetics
- TBXT (T/brachyury) germline duplications in familial cases
- Somatic TBXT overexpression
- PI3K/mTOR pathway alterations
- CDKN2A deletions common
Treatment
- Wide surgical resection - en bloc with negative margins paramount
- Proton beam radiotherapy - preferred for skull base and when margins positive
- Carbon ion radiotherapy - superior local control in some centres
- Systemic therapy limited: imatinib (PDGFR-directed) modest activity; clinical trials
Prognosis
- Median survival 6-7 years
- 5-year survival 65-70%
- Local recurrence is the dominant mode of failure
- Dedifferentiated chordoma: very poor prognosis
Key Points
- Rare sacroma of the spine with a high recurrence rate
- Wide surgical resection is the primary treatment
- Relatively resisitant to chemotherapy and radiotherapy
Workup - Blood Tests
- FBC, U&E, LFTs - pre-operative baseline
- Bone profile - calcium, phosphate, ALP
Workup - Local Imaging
- Plain radiograph
- MRI primary site with gadolinium
- CT of primary site for bony detail
Workup - Biopsy
CT-guided core needle biopsy
Workup - Staging
- CT chest/abdomen/pelvis
- PET-CT
Workup - Other
- MDT at specialist Bone sarcoma or skull base centre
- Neurosurgical and orthopaedic spine surgery liaison essential
Follow-up Summary
Medical disclaimer
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