How Neuroblastoma Is Diagnosed

Healthcare providers use multiple strategies to diagnose Neuroblastoma.

Healthcare providers may implement physical, hands-on testing, or medical imaging/lab tests to confirm a diagnosis.

Specifically, they may advise an at-home test (feeling your child for lumps), a physical examination by the provider in an office setting, testing blood (blood work), or utilizing medical imaging technology (e.g., computed tomography [CT] scan).

This article will discuss these methods of diagnosis and more in detail.

At-Home Checks

At-home checks for neuroblastoma are not designed to help you diagnose your child. Instead, they are meant to help increase awareness of its possible symptoms. At-home checks may help detect cancer early rather than after it has progressed.

Gently feel around your child’s spine, neck, chest, and abdomen for lumps. If you do feel a mass, keep in mind that it could be related to another condition, like an infection. You'll want to have it looked at by your child's doctor.

Physical Examination

At an appointment with your child's doctor, they will ask you questions about your child's symptoms, such as when they started. They will also review your child's medical history and may also ask you questions about your family's medical history.

The next step will be for your child's doctor to complete a physical exam, which will include listening to your child’s breathing and heartbeat, as well as feeling for any lumps or masses.

A physical exam helps your child's doctor start to narrow down the possible causes of your child's symptoms. While an exam is sometimes enough to diagnose certain conditions, a condition like cancer usually requires additional tests to diagnose.

Labs and Tests

Blood work helps your child's doctor assess how well your child's body is doing by looking at markers of their nutrition status, immune system, and organ function.

• Complete blood count (CBC): A CBC test is one of the most common blood tests that doctors order. It gives them information like the number of red blood cells and white blood cells, as well as the levels of hemoglobin and other markers.
• Basic metabolic panel (BMP): A BMP is commonly done to see how well a person's metabolism is working. Calcium, carbon dioxide, chloride, creatinine, glucose, potassium, sodium, and blood urea nitrogen (BUN) are all included in the BMP.
• Biopsy: A biopsy is a tissue sample that is collected and tested in a lab to look for any abnormal cells. For neuroblastoma, a biopsy could be taken of the mass itself to confirm the diagnosis. It can also help doctors develop a treatment plan. A provider may also take a bone marrow sample, as this is one of the most common places that neuroblastoma spreads.

Imaging

If your child has a lump under their skin, a doctor might be able to assess it to some degree by feeling it. They might also want to do imaging tests that will let them see it better, or look at other parts of the body to see if there are masses elsewhere that cannot be felt.

• X-ray: X-rays produce an image of the body in varying shades of black, white, and gray. With neuroblastoma, X-rays can be used to assess bone health and see if cancer has spread to the bones.
• Ultrasound: An ultrasound sends sound waves through the body, and the echoes can help assess different organs and structures. If your doctor suspects a tumor, an ultrasound might be one of the first imaging tests used, as they are easy to do on young children. The test works best for seeing tumors in the abdomen.
• Computed tomography (CT) scan: CT scans combine multiple X-ray images to create a detailed picture of the inside of the body. The test is often used to assess for neuroblastoma tumors in the pelvis, chest, or abdomen.
• Magnetic resonance imaging (MRI): An MRI provides detailed images of the body's soft tissues, making it the preferred way to look for neuroblastoma tumors. This type of imaging helps doctors clearly see the details and size of tumors, and can help them plan to remove the masses through surgery.
• Metaiodobenzylguanidine (MIBG) scan: An MIBG scan is often done after neuroblastoma has been confirmed with other imaging. MIBG helps assess whether cancer has spread to any other parts of the body. MIBG contains a small amount of radioactive iodine that is absorbed by the tumor cells. When the scan is completed, the cells that took up the MIBG will show up on the image. While the test is effective in about 90% to 95% of people with neuroblastoma, a small percentage of people have tumors that resist taking up MIBG.
• Positron emission tomography (PET) scan: PET scans use radioactive substances to create images of tumors. The substance is given at a low dose and it is not harmful, passing out of the body within a couple of days. The test may not be completed if an MIBG scan was done, but it can be helpful if someone has tumors that do not absorb MIBG.

Differential Diagnoses

Many of the signs and symptoms of neuroblastoma can also occur in other diseases. Conditions that your child's doctor will want to rule out before making a diagnosis of neuroblastoma include:

• Dermoid cyst: A noncancerous lump under the skin
• Infection: An infection could cause a lump and some of the other symptoms seen in neuroblastoma
• Ewing’s sarcoma: A type of cancer that often develops in or around bones
• Germ cell tumor: A type of cancer that forms around reproductive organs
• Hepatoblastoma: A rare childhood cancer that develops in the liver
• Infantile fibromatosis: A rare type of benign tumor that may grow in skin, muscle, or bone cells
• Lymphoma: A type of cancer affecting the lymphatic system (part of the immune system)
• Rhabdomyosarcoma: A type of soft tissue cancer that usually begins in muscle tissue attached to bones
• Small round cell sarcoma: A type of soft tissue cancer
• Wilms’ syndrome: A rare type of childhood cancer that begins in the kidneys

Summary

If your child has signs or symptoms of neuroblastoma, let their doctor know. Their doctor can do an exam, perform medical tests, and talk to you about your family history to find out whether your child's symptoms are being caused by cancer or something else.

A Word From Verywell

A cancer diagnosis is a life-altering event, but know that there are treatment options available for neuroblastoma, and research into treating this type of cancer is ongoing. If your child is diagnosed with neuroblastoma, their healthcare team will discuss all the options for treatment with you and guide your family through the process.