Neuroblastoma

What it is

Overview

Neuroblastoma is the most common extracranial solid cancer in infants. It develops from immature nerve cells (neuroblasts) of the sympathetic nervous system — most often in the adrenal glands above the kidneys, but also along the spine, chest, and neck. It has remarkable biological diversity: some cases spontaneously regress; others are deadly despite intensive treatment.

Biology

How It Develops

Neuroblastoma arises from neural crest cells that fail to mature. Mutations in MYCN (amplified in ~20% of cases and associated with poor prognosis), ALK, and PHOX2B are key drivers. High-risk disease is characterized by aggressive spread to bone marrow and distant organs at the time of diagnosis.

Warning signs

Symptoms

• —Abdominal swelling or lump
• —Bone pain or limping
• —Proptosis (bulging eyes) or bruising around eyes
• —High blood pressure, rapid heartbeat
• —Unusual eye movements (opsoclonus-myoclonus)
• —Weight loss and irritability

Detection

Diagnosis Methods

• —CT or MRI of abdomen and chest
• —MIBG scan (metaiodobenzylguanidine)
• —Bone marrow biopsy
• —Urine catecholamines (vanillylmandelic acid)
• —Tumor biopsy with MYCN analysis
• —PET scan

Medical care

Treatment Options

• —Surgery
• —Chemotherapy (induction: cyclophosphamide, doxorubicin, cisplatin)
• —High-dose chemotherapy with autologous stem cell rescue
• —Radiation therapy and MIBG therapy
• —Immunotherapy (dinutuximab)
• —Differentiation therapy (isotretinoin/Accutane)

Data

Statistics

Prevention

Risk Factors

• —Age under 5
• —Family history (rare germline ALK or PHOX2B mutations)
• —Most cases are sporadic with no known cause

Further reading

Resources