Neuroblastoma
What is Neuroblastoma?
Neuroblastoma is a type of cancer that develops in the nerve tissue of infants and young children. It most often starts in the adrenal glands, which sit on top of the kidneys. The cancer can also begin in nerve tissue near the spine in the chest, abdomen, or pelvis. Neuroblastoma affects about 1 in 7,000 children, making it the most common cancer in babies under one year old.
This cancer forms from immature nerve cells called neuroblasts. In normal development, these cells mature into functioning nerve cells or adrenal gland cells. With neuroblastoma, the cells grow and multiply out of control instead of maturing properly. The tumors can produce excess amounts of hormones called catecholamines, which help regulate blood pressure and other body functions. About 90% of neuroblastoma cases occur in children younger than 5 years old.
Neuroblastoma can range from low risk to high risk depending on the child's age, tumor location, and genetic factors. Some tumors grow slowly or even go away on their own. Others grow quickly and spread to other parts of the body. Early detection and appropriate treatment can significantly improve outcomes for children with this condition.
Symptoms
- A lump or swelling in the abdomen, neck, or chest
- Pain in the bones or joints
- Swelling or bruising around the eyes
- Bulging eyes or drooping eyelids
- Difficulty breathing or chronic cough
- Diarrhea or constipation
- Fever that comes and goes
- Loss of appetite and weight loss
- Weakness or paralysis in the legs or arms
- Fatigue and irritability
- High blood pressure or rapid heartbeat
Some children with neuroblastoma show no symptoms early on. The cancer may only be discovered during an exam for another health concern. Symptoms vary widely depending on where the tumor is located and whether it has spread.
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Causes and risk factors
Neuroblastoma develops when immature nerve cells mutate and grow uncontrollably instead of maturing normally. Scientists do not fully understand what triggers these genetic changes. Most cases happen randomly with no clear family history. Only about 1 to 2% of neuroblastoma cases appear to be inherited from parents. Certain genetic mutations in genes like ALK or PHOX2B increase the risk when passed down through families.
Risk factors for neuroblastoma are not well understood because it primarily affects very young children. The condition is slightly more common in boys than girls. Children with certain genetic conditions like congenital central hypoventilation syndrome or Hirschsprung disease have higher risk. Unlike many adult cancers, neuroblastoma does not appear to be linked to environmental factors or lifestyle choices. Most children who develop neuroblastoma have no known risk factors.
How it's diagnosed
Doctors diagnose neuroblastoma through a combination of physical exams, imaging tests, and laboratory studies. If a tumor is suspected, imaging tests like ultrasound, CT scans, or MRI scans help locate and measure it. A biopsy, where a small tissue sample is removed and examined under a microscope, confirms the diagnosis. Doctors also perform bone marrow biopsies to check if the cancer has spread.
Blood and urine tests measure levels of catecholamines and their breakdown products. Neuroblastoma tumors often produce excess catecholamines, which show up in these tests. Elevated levels can support the diagnosis and help monitor treatment response. Because neuroblastoma requires specialized testing and treatment, families should work closely with pediatric oncology specialists. Talk to your doctor about testing options and next steps if you have concerns about your child's health.
Treatment options
- Active surveillance for very low-risk tumors that may resolve on their own
- Surgery to remove the tumor completely or as much as safely possible
- Chemotherapy to shrink tumors before surgery or kill remaining cancer cells
- Radiation therapy to target cancer cells in specific areas
- Stem cell transplant for high-risk cases to rebuild healthy bone marrow
- Immunotherapy to help the immune system recognize and attack cancer cells
- Targeted therapy drugs that focus on specific genetic mutations
- Supportive care to manage symptoms and side effects during treatment
- Nutritional support to maintain strength and healthy growth
- Regular follow-up monitoring to check for recurrence
Frequently asked questions
Neuroblastoma primarily affects infants and young children. About 90% of cases occur in children younger than 5 years old. It is the most common cancer diagnosed in babies under one year of age. While rare, neuroblastoma can occasionally occur in older children and even adults.
Neuroblastoma is sometimes discovered during routine physical exams or imaging tests done for other reasons. Some countries have screening programs for infants, though these are not standard in the United States. Early detection can happen when doctors find a lump during a wellness check. Most cases are diagnosed after symptoms prompt medical evaluation.
Catecholamines are hormones produced by the adrenal glands that help regulate blood pressure and heart rate. Neuroblastoma tumors often produce excess catecholamines because they develop from the same type of cells. Measuring catecholamine levels in blood or urine can help diagnose neuroblastoma and track how well treatment is working. About 90% of children with neuroblastoma have elevated catecholamine levels.
Most neuroblastoma cases occur randomly and are not inherited. Only about 1 to 2% of cases appear to run in families. Certain genetic mutations can increase risk when passed from parent to child. If you have a family history of neuroblastoma or related conditions, genetic counseling may help assess your child's risk.
Survival rates vary widely depending on the child's age, tumor stage, and genetic factors. Children with low-risk neuroblastoma have survival rates above 95%. High-risk neuroblastoma has lower survival rates, though new treatments continue to improve outcomes. Early diagnosis and treatment at specialized pediatric cancer centers provide the best chance for recovery.
Yes, neuroblastoma can spread to lymph nodes, bones, bone marrow, liver, and skin. About half of all neuroblastoma cases have already spread by the time of diagnosis. The pattern and extent of spread help doctors determine the cancer's stage and risk level. Imaging tests and bone marrow biopsies check whether the cancer has metastasized.
Treatment duration depends on the cancer's risk level and how it responds to therapy. Low-risk cases may require only surgery or short-term observation. High-risk neuroblastoma often needs 12 to 18 months of intensive treatment including chemotherapy, surgery, and stem cell transplant. Your child's oncology team will create a treatment plan based on their specific needs.
Treatment can cause late effects including hearing loss, heart problems, kidney issues, and learning difficulties. Growth and development may be affected by chemotherapy or radiation. Some children experience infertility later in life. Regular follow-up care helps monitor and manage these potential long-term effects throughout childhood and into adulthood.
There are no known ways to prevent neuroblastoma because the cause remains largely unknown. The condition is not linked to environmental exposures or parental behaviors during pregnancy. Most children who develop neuroblastoma have no identifiable risk factors. Focusing on overall child health and attending regular wellness visits can help with early detection if it occurs.
Genetic testing may be recommended to look for inherited mutations that increase cancer risk. This information can help guide treatment decisions and inform family planning. It also helps identify if siblings or future children might have elevated risk. Your child's oncology team and a genetic counselor can discuss whether testing is appropriate for your family.