Skip to content

Chordoma

Summary

fleuron

  • Rare, slow-growing malignant tumour arising from notochordal remnants
  • Typically occurs in the axial skeleton, most commonly at the sacrum and skull base
  • Characterised by locally aggressive behaviour and high recurrence rates1

Pathophysiology

  • Originates from persistent notochordal remnants along the axial skeleton
  • Expresses brachyury, a key transcription factor in notochord development
  • Three histological subtypes:
    • Conventional (most common)
    • Chondroid
    • Dedifferentiated (most aggressive)

Demographics

  • Incidence: 0.08 per 100,000 person-years
  • Median age at diagnosis: 58-60 years
  • Slight male predominance (male-to-female ratio 1.5:1)
  • Distribution by location:
    • Sacrococcygeal: 50-60%
    • Skull base: 25-35%
    • Mobile spine: 15%

Diagnosis

  • Clinical presentation:
    • Sacral: pain, neurological deficits, bowel/bladder dysfunction
    • Skull base: cranial nerve palsies, headache, visual disturbances
  • Histopathology:
    • Physaliphorous cells with vacuolated cytoplasm
    • Positive immunohistochemistry for brachyury, cytokeratin, and S100 protein
  • Genetic testing:
    • Duplication of brachyury gene (T) on chromosome 6q27

Imaging

  • CT:
    • Lytic, destructive lesion with soft tissue mass
    • Calcifications in 30-70% of cases
  • MRI:
    • T1: hypointense to isointense
    • T2: hyperintense with heterogeneous signal
    • Strong enhancement with gadolinium
    • "Honeycomb" appearance due to fibrous septations
  • PET/CT:
    • Variable FDG uptake, more useful for metastatic disease detection

panels-1

  • 50-year-old patient presented with neck pain and a left arm radiculopathy.
  • A hyperintense and expansile lesion filling the C6 vertebral body caused compression of the left C7 nerve root.

panels-1

  • 30-year-old patient 3 month history of neck pain and crepitus.
  • MRI showed an expansile enhancing lesion centred on the left side of the C3 vertebra.
  • The lesion was lucent on CT and metabolically active on FDG-PET.

panels-1

  • 60-year-old patient presented with visual impairment and clinical features of hypopituitarism.
  • MRI showed a minimally enhancing lesion replacing the superior clivus and pituitary fossa.
  • The pituitary gland, infundibular stalk and optic chiasm were compressed.

panels-1

  • A 50-year-old patient presented with nasal obstruction.
  • MRI showed a lobulated mild enhancing lesion in the nasopharynx with erosion of the inferior cortex of the clivus.
  • 4 years later, a follow-up MRI showed no recurrence but many microhaemorrhages in the anterior temporal lobes and brainstem, which were likely to be related to radiotherapy.

panels-1

  • A 50-year-old patient presented with a visual field defect picked up during a routine eye test.
  • CT showed a large destructive lesion centred on the anterior clivus and pituitary fossa.
  • MRI showed an avidly enhancing clivus lesion that was compressing the right cisternal optic nerve.
  • With the differential including a pituitary macroadenoma, a chordoma was confirmed following a transsphenoidal biopsy.

Treatment

  • En bloc resection where feasible, with adjuvant proton beam or carbon ion radiotherapy; high local recurrence rate

Differential diagnosis (clival/midline)

Imaging differential Differentiating feature
Chondrosarcoma Off-midline (petro-occipital synchondrosis), with chondroid ring-and-arc calcification
Clival metastasis / plasmacytoma Destructive marrow lesion, often known primary; usually lower T2 signal
Pituitary macroadenoma Centred on the sella and expanding it, rather than destroying the clivus
Ecchordosis physaliphora Small, non-enhancing, retroclival, incidental notochordal rest without bone destruction
Skull base meningioma Dural-based with a dural tail and homogeneous enhancement

  1. Ulici et al. Chordoma. 2022. Archives of pathology & laboratory medicine - Open in new tab. ↩