Neuroblastoma

Neuroblastoma is a cancer that develops from immature nerve cells (neuroblasts) of the sympathetic nervous system. It is the most common solid tumor outside the brain in young children, usually diagnosed before the age of five.

Neuroblastoma behaves very differently from child to child: some tumors disappear on their own, while others need intensive treatment. Careful risk assessment is therefore essential.

Symptoms

Common signs include:

• A lump or swelling in the tummy, often painless
• Bone pain, limping, fever and tiredness when the disease has spread
• Bruising around the eyes or bulging eyes
• Bluish lumps under the skin in babies

If the tumor is in the chest or neck, it may cause:

• Breathing or swallowing problems
• A drooping eyelid and small pupil on one side (Horner syndrome)
• Weakness of the legs if the tumor presses on the spinal cord — an emergency

Causes and risk factors

Neuroblastoma begins before birth or in early childhood. Most cases have no known cause; a small number run in families (for example with ALK or PHOX2B changes).

Staging and risk groups

Tumors are staged with the International Neuroblastoma Risk Group system (L1, L2, M, MS) and combined with age, tumor biology (MYCN amplification) and histology to form low-, intermediate- and high-risk groups.

Prognosis

Low- and intermediate-risk neuroblastoma has an excellent outlook. High-risk disease needs intensive multimodal treatment, and survival has improved substantially with modern therapy.

Diagnosis confirms neuroblastoma, finds where it has spread and identifies its biological features.

Physical exam

The doctor checks for lumps, bruising, an enlarged liver and signs of nerve compression.

Laboratory tests

• Blood tests — blood count, kidney and liver function, LDH and ferritin
• Urine tests — catecholamine breakdown products (HVA and VMA) are raised in most children

Imaging tests

• Ultrasound — often the first scan of the abdomen
• CT and MRI — show the tumor, nearby blood vessels and the spine
• MIBG scan — a specific scan that lights up neuroblastoma cells throughout the body
• PET scan and bone scan — for tumors that do not take up MIBG

Biopsy

A tumor biopsy determines histology and genetic features such as MYCN amplification and chromosome changes. Bone marrow aspirates and biopsies from both hips check for spread to the marrow.

Treatment depends on the risk group — from careful observation for some babies to intensive multimodal treatment for high-risk disease.

Observation

Some small tumors in infants shrink or disappear without treatment and are monitored closely.

Surgery

Removes the tumor when it can be done safely; often the only treatment needed for localized low-risk tumors.

Chemotherapy

Used for intermediate- and high-risk neuroblastoma to shrink the tumor before surgery.

Bone marrow / stem cell transplant

High-risk neuroblastoma is treated with high-dose chemotherapy followed by an autologous stem cell transplant (sometimes two in tandem).

Radiation therapy

Targeted radiation to the primary tumor site and to remaining areas of disease.

Immunotherapy

Anti-GD2 antibodies (such as dinutuximab) after transplant significantly reduce the risk of relapse. Retinoic acid (isotretinoin) helps mature remaining cells.

Targeted therapy and MIBG therapy

ALK inhibitors for tumors with ALK mutations, and therapeutic MIBG for relapsed or resistant disease.

Treatment side effects and our promise

We monitor hearing, kidney function, growth and development, and provide each family with a coordinator, psychological support and long-term follow-up.

Our pediatric oncology, surgery and transplant teams treat neuroblastoma together.