Doctors Revision

Oncology

Neuroblastoma

An embryonal cancer arising from neural crest cells, which form the sympathetic nervous system. Most common extracranial solid tumour of childhood, typically presenting as an abdominal mass.

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Referral and warning signs

When to refer

Immediate referral to specialized Paediatric Oncology centre for ALL suspected cases.

Red flags

  • Palpable abdominal mass crossing midline in a child
  • Periorbital bruising ('raccoon eyes')
  • Opsoclonus-myoclonus syndrome
  • Unexplained bone pain / limp
  • Signs of spinal cord compression

Signs and symptoms

  • Abdominal mass: Often firm, irregular, may cross midline. Can cause abdominal pain or distension.
  • Systemic symptoms: Fever, weight loss, irritability, bone pain (due to metastases).
  • Symptoms related to location/metastases: Orbital metastases (Proptosis - bulging eye, periorbital ecchymoses - 'raccoon eyes'), Bone metastases (Bone pain, limp), Skin metastases (Bluish subcutaneous nodules - 'blueberry muffin' spots - esp. infants), Spinal cord compression (Weakness, paralysis, bowel/bladder dysfunction - from tumour extending through neural foramina).
  • Paraneoplastic syndromes: Opsoclonus-myoclonus-ataxia syndrome ('dancing eyes, dancing feet'), Secretory diarrhoea (due to VIP secretion).
  • Hypertension (due to catecholamine secretion).

Risk factors

  • Most cases are sporadic.
  • Rare familial predisposition (associated with ALK gene mutations).

Diagnosis

Clinical assessment

Suspect in young child presenting with abdominal mass, +/- systemic symptoms, bone pain, or characteristic metastatic signs (raccoon eyes, blueberry muffin spots).

Investigations

  • Urinary Catecholamine Metabolites (VMA - Vanillylmandelic acid, HVA - Homovanillic acid): Elevated in ~90% of cases. Key diagnostic test.
  • Imaging: Abdominal Ultrasound (Initial assessment), CT Scan or MRI Scan (Abdomen/Chest/Pelvis - Define extent, calcifications, vascular encasement, nodes, mets), MIBG Scan (Metaiodobenzylguanidine Scan - Highly specific, staging for bone/marrow/soft tissue mets).
  • Tissue Biopsy: Of primary tumour or metastatic site for histological confirmation (small round blue cells, rosettes) and molecular genetics (MYCN amplification - key prognostic factor).
  • Bone Marrow Aspiration and Biopsy (bilateral): Assess for marrow involvement.
  • Blood tests: CBC, LFTs, RFTs, LDH, Ferritin.

Diagnostic criteria

Diagnosis confirmed by: Histopathology from tumour biopsy OR Demonstration of tumour cells in bone marrow aspirate/biopsy PLUS elevated urinary catecholamine metabolites (VMA/HVA).

Management

Non-pharmacological management

  • Referral to specialized Paediatric Oncology centre.
  • Management depends on stage, age, and risk stratification (based on MYCN status, histology, ploidy).
  • Surgery: Resection of primary tumour (extent depends on stage/risk/encasement).
  • Supportive care.

Pharmacological treatment

  • Chemotherapy: Multi-agent chemotherapy is a key component, especially for intermediate/high-risk disease.
  • High-Dose Chemotherapy with Autologous Stem Cell Rescue: Used for high-risk disease.
  • Immunotherapy (e.g., Anti-GD2 antibodies like Dinutuximab) combined with differentiating agents (Isotretinoin): Used as maintenance therapy for high-risk disease.
  • Radiotherapy: Used for local control in high-risk disease or specific situations.

Monitoring

Monitor treatment response (imaging, MIBG, urine catecholamines). Monitor for treatment toxicity. Long-term follow-up for relapse and late effects.

Complications

  • Metastatic disease (bone, bone marrow, liver, skin, lymph nodes)
  • Spinal cord compression
  • Tumour lysis syndrome
  • Treatment-related toxicity (short and long term)
  • Relapse

Prevention

  • No known prevention.

Patient education

  • (To parents/guardians) Explain neuroblastoma diagnosis.
  • Need for specialist care and complex treatment (surgery, chemo, possibly radiation/immunotherapy).
  • Explain staging and risk stratification.
  • Discuss treatment plan, side effects, supportive care.
  • Prognosis varies significantly with risk group.
  • Importance of adherence and long-term follow-up.

Uganda-specific notes

Presents challenges due to need for specialized diagnostics (MIBG, MYCN), intensive chemotherapy, high-dose therapy/stem cell rescue, immunotherapy, and supportive care capacity, primarily available at UCI.

References

  • Uganda Clinical Guidelines (UCG) 2023

    Chapter 12, Section 12.3.1

  • Uganda Cancer Institute Treatment Guidelines / Paediatric Oncology Protocols

    (Specific protocols)

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