National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Neuroblastoma


Other Names:
NB
Categories:
Neuroblastoma is a tumor that develops from neuroblasts (immature nerve tissue) in an infant or child, usually before the age of 5. It most often develops in infancy and may be diagnosed in the first month of life. The tumor most often develops in the adrenal gland, but may develop in the neck, chest, or spinal cord. It is considered an aggressive tumor because it often spreads to other parts of the body (metastasizes).[1] In most cases, it has spread by the time it is diagnosed.[2] A neuroblastoma can cause a variety of signs and symptoms, including a lump where the tumor is growing, bone pain, diarrhea, and various neurological symptoms.[1][2]

The cause of most neuroblastomas is not known. Rarely, a neuroblastoma is caused by an inherited mutation in a gene, such as the ALK gene or PHOX2B gene.[3] Diagnosing a neuroblastoma may rely on a physical examination, blood tests, imaging tests (such as MRI or CT scan) and ultimately, a biopsy.[1][2] Treatment depends on the size and location of the tumor within the body, as well as the child’s age. Surgery is often the first step of treatment, and may be followed by chemotherapy, radiation therapy, or a stem cell transplant in more severe cases.[2] In some children the tumor goes away without treatment.[1] While the long-term outlook and chance of survival depends on many factors, the 5-year survival rate ranges from 40-50% in some, to over 95% in others. The child's doctor is in the best position to provide personalized information about the outlook in each case.[4]
Last updated: 10/16/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Elevated urinary catecholamines 0011976
Neoplasm of the nervous system
Tumor of the nervous system
0004375
Percent of people who have these symptoms is not available through HPO
Abdominal mass 0031500
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Abnormality of the thorax
Abnormality of the chest
0000765
Anemia
Low number of red blood cells or hemoglobin
0001903
Ataxia 0001251
Autosomal dominant inheritance 0000006
Bone pain 0002653
Diarrhea
Watery stool
0002014
Elevated urinary dopamine 0011979
Elevated urinary homovanillic acid 0011977
Elevated urinary vanillylmandelic acid 0011978
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Fever 0001945
Ganglioneuroblastoma 0006747
Ganglioneuroma 0003005
Horner syndrome 0002277
Hypertension 0000822
Incomplete penetrance 0003829
Myoclonus 0001336
Neuroblastoma
Cancer of early nerve cells
0003006
Opsoclonus 0010543
Skin nodule 0200036
Somatic mutation 0001428
Spinal cord compression
Pressure on spinal cord
0002176
Sporadic
No previous family history
0003745
Weight loss 0001824
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Iobenguane I 123 (Brand name: Adreview™) - Manufactured by GE Healthcare, Inc
    FDA-approved indication: To be used in the detection of primary or metastatic pheochromocytomas or neuroblastomas as an adjunct to other diagnostic tests
    National Library of Medicine Drug Information Portal
  • dinutuximab (Brand name: Unituxin) - Manufactured by United Therapeutics Corporation
    FDA-approved indication: For use in combination with granulocyte-macrophage colony-stimulating factor (GM-CSF), interleukin-2 (IL-2) and 13-cis-retinoic acid (RA), for the treatment of pediatric patients with high-risk neuroblastoma who achieve at least a partial response to prior first-line multiagent, multimodality therapy
    National Library of Medicine Drug Information Portal

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include nephroblastoma, which makes it necessary to systematically check urinary catecholamines in case of an abdominal tumor. Bone pain and limp can be interpreted as synovitis of the hip. Possible bilateral peri-orbital hematomas, caused by orbital metastases, should not lead to a diagnosis of maltreatment.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Neuroblastoma. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The American Cancer Society provides a detailed overview of neuroblastoma. Click on the link above to access this information.
  • The Children's Neuroblastoma Cancer Foundation provides information about neuroblastoma through a Parent Handbook. Click on the link above to access an online version of the Handbook.
  • Genetics Home Reference (GHR) contains information on Neuroblastoma. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Neuroblastoma. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Could you tell me which site, database, or scientific reference I could look at to find the most recent data on neuroblastoma epidemiology; in particular the prevalence in the United States and Europe? See answer


  1. National Cancer Institute. Neuroblastoma Treatment (PDQ®)–Patient Version: General Information about Neuroblastoma. National Cancer Institute (NCI). September 18, 2018; http://www.cancer.gov/cancertopics/pdq/treatment/neuroblastoma/patient/.
  2. MedlinePlus. Neuroblastoma. November 10, 2016; http://www.nlm.nih.gov/medlineplus/ency/article/001408.htm.
  3. What Causes Neuroblastoma?. American Cancer Society. March 19, 2018; https://www.cancer.org/cancer/neuroblastoma/causes-risks-prevention/what-causes.html.
  4. Neuroblastoma Survival Rates by Risk Group. American Cancer Society. March 19, 2018; https://www.cancer.org/cancer/neuroblastoma/detection-diagnosis-staging/survival-rates.html.