Malignant neuroendocrine tumour of the sympathetic nervous system that originates from neural crest cells

Aetiology

• Affects 1 in 7 000 live births
• Usually diagnosed 18 months, 40% diagnosed in infancy
• 40% arise in the adrenal medulla, remainder mostly occur along the sympathetic chain
• Composed of primitive appearing cells but can show maturation and differentiation towards gangliod cells
• Age and stage important for prognosis
• Amplification of N-myc and expression of telomerase predict a poor outcome

Clinical features

• Usually presents quite late - majority of symptoms are due to mass effects of the tumour or as a result of metastasis
• Symptoms include:
  • Loss of appetite
  • Vomiting
  • Weight loss
  • Fatigue
  • Bone pain

Investigations

• Bloods: FBC may detect anaemia, raised inflammatory markers, abnormal coagulation tests
• CT
• Biopsy

Management

Depends on risk stratification:

• Low risk patients are simply observed for spontaneous resolution or are treated with local resection
• High risk patients are given multi-agent chemotherapy, surgery and radiotherapy