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 rates

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 pititary 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 avidely enhancing clivus lesion that was compressing the right cisternal optic nerve.
  • With the differential including a pituitary macroadenoma, a chordoma was confirmed following a transphenoidal biopsy.

Treatment

  • Surgery:
    • En bloc resection with wide margins is the primary treatment
    • Challenging due to proximity to critical structures
  • Radiation therapy:
    • Adjuvant or definitive treatment
    • Proton beam therapy or carbon ion therapy for improved local control
  • Systemic therapy:
    • Limited efficacy of conventional chemotherapy
    • Targeted therapies:
    • Imatinib for PDGFR-positive tumours
    • Erlotinib for EGFR-positive tumours
  • Immunotherapy:
    • Ongoing clinical trials with checkpoint inhibitors

Differential diagnosis

Differential Diagnosis Differentiating Feature
Chondrosarcoma Lacks the physaliphorous cells characteristic of chordoma; typically shows chondroid matrix
Metastatic carcinoma Usually lacks the myxoid stroma seen in chordoma; immunohistochemistry differs
Pituitary adenoma Typically confined to the sella turcica; lacks notochordal differentiation
Meningioma Usually dural-based; lacks physaliphorous cells; positive for EMA and PR
Schwannoma Typically encapsulated; S100 positive but brachyury negative
Ecchordosis physaliphora Small, incidental finding; lacks invasive growth pattern of chordoma
Giant cell tumour Lacks physaliphorous cells; contains numerous osteoclast-like giant cells
Osteosarcoma Produces osteoid matrix; lacks physaliphorous cells and myxoid stroma
Paraganglioma Shows characteristic "zellballen" pattern; positive for neuroendocrine markers
Ependymoma Typically intraventricular; shows perivascular pseudorosettes; GFAP positive