Neuroblastoma: A Childhood Cancer Explained – Symptoms, Treatment & Outlook

What is Neuroblastoma?

Neuroblastoma is a childhood cancer that begins in immature nerve cells (neuroblasts), which grow and divide uncontrollably instead of maturing into normal nerve cells. It usually develops before birth or in early childhood, most often in the abdomen, and accounts for approximately 8–10% of all childhood cancers. The encouraging news is that, with modern treatments and early diagnosis, many children with neuroblastoma now have much better outcomes than in the past.

Who Gets Neuroblastoma?

Neuroblastoma mainly affects very young children, with most cases diagnosed before the age of five and mostly occurring in children under ten; the median age at diagnosis is about 17 months. Uniquely, in some infants under one year, neuroblastoma can even regress spontaneously, disappearing without treatment.

According to StatPearls, neuroblastoma is the most common tumour of the sympathetic nervous system. It is classified as an embryonal neuroendocrine tumour that arises from neural crest progenitor cells along the sympathetic chain, most commonly in the adrenal glands, and accounts for about 10.2 cases per million children and is responsible for roughly 15% of childhood cancer–related deaths.

Where Neuroblastoma Develops in the Body

Neuroblastoma can develop wherever sympathetic nerve tissue is found throughout the body.

The most common locations include:

• Adrenal glands (above the kidneys) – Approximately 40% of neuroblastoma cases originate here, often appearing as an adrenal gland tumour.
• Abdomen – Including areas around the spine and major blood vessels.
• Chest – Particularly in the area behind the lungs.
• Neck – Along the cervical sympathetic chain.
• Pelvis – Near the tailbone and lower spine.
• Bone marrow – Where the cancer may spread from its original location.

Causes & Risk Factors

Understanding neuroblastoma causes can help families process their child's diagnosis, though it's important to know that in most cases, there's nothing parents could have done to prevent it.

The main factors include:

• Genetic mutations – Random changes in nerve cell DNA that occur during development.
• Hereditary factors – Very rare inherited gene mutations (less than 2% of cases).
• Developmental timing – Problems during foetal nerve cell development.
• Unknown environmental factors – Most causes remain unclear.
• Age – Being under five years old significantly increases risk.
• Family history – Extremely rare, though some families may carry inherited gene mutations.

How Neuroblastoma Develops (Pathophysiology)

Neuroblastoma develops when immature nerve cells (neuroblasts) acquire genetic mutations, fail to mature, and instead grow uncontrollably into tumours that can spread through the blood or lymph. In some young children, these tumours may grow slowly or even shrink on their own. In contrast, others are highly aggressive, so each case is biologically distinct and requires individualised treatment.

Types of Neuroblastoma

Doctors classify neuroblastoma into several types based on how the cancer cells look under a microscope and how they behave:

• Ganglioneuroblastoma – Contains both immature and more mature nerve cells, often less aggressive.
• Poorly differentiated neuroblastoma – Cells look very different from normal nerve cells.
• Undifferentiated neuroblastoma – Cells show no signs of nerve cell development.
• Differentiating neuroblastoma – Shows some signs of maturing into nerve cells.

Stages of Neuroblastoma (INRG/INSS)

Neuroblastoma stages help doctors understand how far the cancer has spread and plan treatment accordingly.

The International Neuroblastoma Staging System includes:

• Stage 1 – Localised tumour that can be completely removed surgically.
• Stage 2A – Localised tumour that cannot be completely removed, but nearby lymph nodes are cancer-free.
• Stage 2B – Localised tumour with cancer in nearby lymph nodes on the same side.
• Stage 3 – Tumour that has spread across the midline of the body or to lymph nodes on the opposite side.
• Stage 4 – Cancer that has spread to distant parts of the body.
• Stage 4S – A special category for infants younger than one year, with limited spread to liver, skin, or bone marrow.

Common Symptoms of Neuroblastoma

Recognising neuroblastoma symptoms early can lead to faster diagnosis and treatment. However, these symptoms can be subtle and may resemble common childhood illnesses.

General neuroblastoma symptoms include:

• Persistent abdominal pain or swelling
• Unexplained lumps or masses that parents can feel
• Chronic fatigue or weakness
• Loss of appetite and weight loss
• Fever without an obvious cause
• Bone pain, especially at night
• Dark circles around the eyes
• Bruising or bleeding easily
• Changes in bowel or bladder habits
• Difficulty breathing or a persistent cough

Symptoms Based on Tumour Location

The location where neuroblastoma develops significantly influences the symptoms your child might experience:

• Abdominal tumours – Swelling, pain, constipation, difficulty eating.
• Chest tumours – Breathing problems, persistent cough, chest pain.
• Neck tumours – Swelling, difficulty swallowing, voice changes.
• Spinal tumours – Back pain, weakness in arms or legs, walking difficulties.
• Bone marrow involvement – Fatigue, pale skin, easy bruising, frequent infections.

How Neuroblastoma is Diagnosed

Diagnosing neuroblastoma involves several steps that help doctors confirm the presence of cancer and determine its extent:

1. Complete medical history and physical examination – Your doctor will ask about symptoms and examine your child carefully.
2. Blood and urine tests – To check for substances produced by neuroblastoma cells.
3. Imaging studies – Various scans to locate tumours and assess their size.
4. Biopsy – Taking a small tissue sample to confirm the diagnosis.
5. Bone marrow examination – To check if cancer has spread to the bone marrow.
6. Additional staging tests – To determine the exact stage and plan treatment.

Diagnostic Tests For Neuroblastoma

Several specific tests help doctors diagnose and stage neuroblastoma effectively:

• Ultrasound – Uses sound waves to create images of internal organs.
• CT (computed tomography) scan – Detailed cross-sectional images of the body.
• MRI (magnetic resonance imaging) – High-resolution images using magnetic fields.
• MIBG scan – A Special nuclear medicine test that highlights neuroblastoma cells.
• PET scan – Shows areas of high metabolic activity that may indicate cancer.
• Bone scan – Detects cancer spread to bones.
• Catecholamines in urine – Measures substances produced by neuroblastoma cells.
• Catecholamines in Plasma - Measures stress hormones, often raised in neuroblastoma.
• MYCN (N-MYC) gene amplification test – Tumour genetic test for MYCN amplification, key for prognosis and treatment intensity.
• Homovanillic acid (HVA), urine – Measures dopamine breakdown products often elevated in neuroblastoma.
• Vanillylmandelic acid (VMA), 24-hour urine – Measures adrenaline breakdown products often elevated in neuroblastoma.

Prognostic Indicators

Several factors help doctors predict how well a child with neuroblastoma might respond to treatment:

• Age at diagnosis – Younger children, especially infants, often have better outcomes.
• Stage of disease – Earlier stages typically have more favourable prognoses.
• MYCN gene status – Tumours without MYCN amplification generally respond better to treatment.
• Tumour histology – How the cancer cells look under a microscope.
• Chromosome abnormalities – Certain genetic changes affect treatment response.
• Location of primary tumour – Some locations are associated with better outcomes.

Treatment Options for Neuroblastoma

Modern neuroblastoma treatment combines multiple approaches tailored to each child's specific situation.

Treatment options include:

• Surgery – To remove tumours and obtain tissue samples
• Chemotherapy – Powerful medicines that destroy cancer cells throughout the body
• Radiation therapy – High-energy beams that target cancer cells
• Immunotherapy – Treatments that help the immune system fight cancer
• Stem cell transplant – For high-risk cases requiring intensive treatment
• Targeted therapy – Drugs that attack specific features of cancer cells
• Supportive care – Managing side effects and maintaining quality of life

Low-Risk vs High-Risk Treatment Approaches

Treatment intensity depends on the child’s risk group. Low-risk neuroblastoma may need only observation or surgery, as some tumours, especially in infants, can regress on their own. On the other hand, intermediate-risk cases usually receive moderate chemotherapy plus surgery. High-risk neuroblastoma needs intensive multimodal therapy (high-dose chemotherapy, surgery, radiation, stem cell transplant, and immunotherapy), which is demanding but has significantly improved survival in aggressive disease.

Stem Cell Transplantation for High-Risk Neuroblastoma

For children with high-risk neuroblastoma, stem cell transplant represents a crucial treatment component. This procedure allows doctors to give very high doses of chemotherapy that would otherwise be too toxic for the bone marrow. Before treatment, doctors collect the child's healthy stem cells. After intensive chemotherapy destroys both cancer cells and bone marrow, the stored stem cells are returned to restore the child's ability to produce blood cells.

Immunotherapy for Neuroblastoma

Immunotherapy has revolutionised neuroblastoma treatment, particularly for high-risk cases. These treatments help the child's immune system recognise and destroy neuroblastoma cells more effectively. Monoclonal antibodies—such as anti-GD2—target specific proteins found on neuroblastoma cells, specifically target proteins found on neuroblastoma cells. This targeted approach has improved survival rates while potentially reducing some side effects compared to traditional chemotherapy alone.

Potential Complications & Long-Term Effects

While neuroblastoma treatment saves lives, it can sometimes cause long-term effects that require ongoing attention:

• Growth and development delays – Some treatments may affect normal growth patterns.
• Hearing problems – Certain chemotherapy drugs can damage hearing.
• Heart function changes – Some treatments may affect heart health.
• Kidney function issues – Monitoring kidney health throughout and after treatment.
• Learning difficulties – Some children may experience cognitive changes.
• Secondary cancers – Very rare, but there is a slightly increased risk of developing other cancers later in life.
• Fertility concerns – Some treatments may affect future reproductive health.

Living With and Managing Neuroblastoma

Managing life during and after neuroblastoma treatment requires comprehensive support and planning:

• Regular medical follow-up – Ongoing monitoring for recurrence and late effects
• Educational support – Helping children maintain or catch up with schooling
• Nutritional guidance – Ensuring proper nutrition during treatment and recovery
• Physical therapy – Maintaining strength and mobility throughout treatment
• Psychological support – Counselling for children and families
• Peer support groups – Connecting with other families facing similar challenges
• Sibling support – Helping brothers and sisters cope with the family’s experience

Survival Rates & Prognosis

The outlook for children with neuroblastoma has improved greatly in recent decades. Five-year survival rates exceed 95% for low-risk cases and 90–95% for intermediate-risk disease. Even in high-risk neuroblastoma, modern intensive treatments have raised five-year survival to around 50–60%, from much lower levels earlier. Many survivors go on to live normal, healthy lives, though some need long-term follow-up for late effects of treatment.

When to See a Doctor

Parents should consult their child's doctor if they notice any concerning symptoms that persist or worsen:

• Persistent abdominal pain or swelling that doesn't resolve with time
• Unexplained lumps or masses anywhere on the child's body
• Chronic fatigue or weakness that interferes with normal activities
• Persistent fever without an obvious cause
• Unexplained bone pain, especially at night or with activity
• Changes in appetite, weight loss, or failure to thrive
• Unusual bruising or bleeding that seems excessive
• Any neurological symptoms, like weakness, balance problems, or changes in reflexes.

Conclusion

When a child is facing a serious condition like neuroblastoma, timely and accurate diagnosis becomes the foundation of effective care. Timely diagnosis helps precise staging, and close monitoring during and after treatment, giving doctors the information they need to plan the best possible way forward.

Early diagnosis and regular monitoring are easier when quality diagnostics are within reach. With 4,000+ tests, full body checkups, and a wide range of speciality testing, you get comprehensive care under one roof with Metropolis Healthcare. Our home sample collection network with 10,000+ touchpoints ensures comfort and accessibility, while quick turnaround times and a strong focus on accurate results support timely treatment decisions. You can book tests through our website, phone, app, or WhatsApp, making it simple to choose the option that best fits your routine.

FAQs

What causes neuroblastoma?

Neuroblastoma usually develops due to random genetic changes in immature nerve cells during early development. In most children, it is not inherited, and there is no clear environmental cause. Rarely, inherited mutations in genes like ALK or PHOX2B can run in families and increase risk.

Is neuroblastoma curable?

Yes. Many children, especially those with low- or intermediate-risk neuroblastoma, are cured and live normal lives. Cure is more challenging in high-risk disease, but survival continues to improve with modern multimodal treatment, immunotherapy and clinical trials.

How is neuroblastoma detected early?

There is no universal screening test for neuroblastoma. Early detection relies on:

• Parents and caregivers notice persistent, unusual symptoms
• Regular pediatric checkups
• Prompt evaluation of signs like abdominal lumps, bone pain, unexplained fevers or neurological symptoms

Imaging (ultrasound, CT/MRI) and lab tests are done once a doctor suspects a tumour.

At what age is neuroblastoma most commonly diagnosed?

Neuroblastoma primarily affects infants and young children under five years of age, with the highest number of cases in the first year of life. Only a small percentage of cases occur in older children, teenagers or adults.

What is the survival rate of neuroblastoma?

Survival depends on the risk group:

• Low-risk: around 95–98% five-year survival
• Intermediate-risk: roughly 90–95%
• High-risk: around 50–60%, though this varies and is improving with newer therapies

Your child’s oncology team will explain the individual prognosis based on stage, biology and treatment response.

Can neuroblastoma come back after treatment?

Yes. Relapse can occur, especially in children with high-risk disease. Recurrent or relapsed neuroblastoma can be more difficult to treat and may require additional chemotherapy, radiation, stem cell transplant, targeted therapy, immunotherapy or clinical trials, so long-term follow-up remains essential.

References

• https://www.mayoclinic.org/diseases-conditions/neuroblastoma/symptoms-causes/syc-20351017
• https://my.clevelandclinic.org/health/diseases/14390-neuroblastoma
• https://emedicine.medscape.com/article/988284-overview
• https://www.ncbi.nlm.nih.gov/books/NBK448111/