Neuroblastoma - Childhood: Diagnosis

Approved by the Cancer.Net Editorial Board, 04/2014

ON THIS PAGE: You will find a list of the common tests, procedures, and scans that doctors can use to find out what’s wrong and identify the cause of the problem. To see other pages, use the menu on the side of your screen.

Doctors use many tests to diagnose cancer and find out if it has spread to another part of the body, called metastasis. Some tests may also determine which treatments may be the most effective. For most tumors, a biopsy is the only way to make a definitive diagnosis of cancer. If a biopsy is not possible, the doctor may suggest other tests that will help make a diagnosis. Imaging tests may be used to find out whether the cancer has spread. This list describes options for diagnosing this type of cancer, and not all tests listed will be used for every person. Your child’s doctor may consider these factors when choosing a diagnostic test:

  • Medical condition
  • Type of cancer suspected
  • Signs and symptoms
  • Previous test results

According to international criteria developed by the International Neuroblastoma Staging System Committee (INSS), diagnosing neuroblastoma depends on two factors:

  • Neuroblastoma in the bone marrow and higher than normal levels of one of the main chemicals produced by the nervous system, called catecholamine, in the urine
  • A tumor biopsy showing neuroblastoma cells

In addition to a physical examination, the following tests may be used to find out if a child has neuroblastoma:

Blood and urine tests. Complete blood counts (CBC) are tested to find out if the child has signs of anemia (low levels of iron in the blood). Liver and kidney function are tested, and urine is collected to learn if there are any tumor markers or other substances produced by a neuroblastoma tumor. A tumor marker is a substance found in higher than normal amounts in the blood, urine, or body tissues of people with certain kinds of cancer.

Normal nerve cells communicate with each other by releasing certain chemicals called neurotransmitters. Catecholamines are neurotransmitters. Eventually the body breaks down the catecholamine molecules into smaller pieces, called metabolites, which are then passed out of the body in the urine.

About 90% of the time, neuroblastoma cells make enough catecholamines to be found in blood or urine tests. The two catecholamine metabolites most often measured are:

  • Homovanillic acid (HVA)
  • Vanillylmandelic acid (VMA)

Biopsy. A biopsy is the removal of a small amount of tissue for examination under a microscope. Other tests can suggest that cancer is present, but only a biopsy can make a definite diagnosis. The sample removed during the biopsy is analyzed by a pathologist. A pathologist is a doctor who specializes in interpreting laboratory tests and evaluating cells, tissues, and organs to diagnose disease. The type of biopsy performed depends on the location of the tumor. If the doctor determines that the entire tumor can be removed during the biopsy, the whole tumor is removed at that time.

Molecular genetic studies. Tests of neuroblastoma cell DNA are used to find a change in the oncogene MYCN, a gene responsible for cell growth. More than one copy of the gene, called amplification, is associated with a tumor that grows and spreads quickly, making it more difficult to treat. A non-amplified MYCN gene is linked to less aggressive tumors, which grow and spread more slowly. Additional tests are done to find out if the tumor has changes in the numbers of whole chromosome or parts of chromosomes. A series of studies have shown that segmental chromosomal aberrations are associated with more aggressive disease, while whole chromosome gains are seen in tumors with more favorable outcome. DNA sequencing tests to find out if mutations of ALK are also commonly done. Sequencing studies have shown that a small subset of neuroblastoma tumors have gene mutations, and some of these mutations, like ALK, can be targeted with new drugs.

Bone marrow aspiration and biopsy. These two procedures are similar and often done at the same time to examine the bone marrow. Bone marrow has both a solid and a liquid part. A bone marrow aspiration removes a sample of the fluid with a needle. A bone marrow biopsy is the removal of a small amount of solid tissue using a needle. The sample(s) are then analyzed by a pathologist. A common site for a bone marrow aspiration and biopsy is the pelvic bone, which is located in the lower back by the hip. The skin in that area is usually numbed with medication beforehand, and other types of anesthesia (medication to block the awareness of pain) may be used.

Computed tomography (CT or CAT) scan. A CT scan creates a three-dimensional picture of the inside of the body with an x-ray machine. A computer then combines these images into a detailed, cross-sectional view that shows any abnormalities or tumors. A CT scan can also be used to measure the tumor’s size. Sometimes, a special dye called a contrast medium is given before the scan to provide better detail on the image. This dye can be injected into a patient’s vein or given as a pill to swallow.

Magnetic resonance imaging (MRI). An MRI uses magnetic fields, not x-rays, to produce detailed images of the brain and spinal column. MRI can also be used to measure the tumor’s size. A special dye called a contrast medium is given before the scan to create a clearer picture. This dye can be injected into a patient’s vein or given as a pill to swallow. An MRI is better at showing tumors around the spine, and it is essential to look at a tumor that is near where nerves leave the spinal column, which can press on the spinal cord.

Bone scan. A bone scan uses a radioactive tracer to look at the inside of the bones. The tracer is injected into a patient’s vein. It collects in areas of the bone and is detected by a special camera. Healthy bone appears gray to the camera, and areas of injury, such as those caused by cancer, appear dark.

MIBG scan. MIBG stands for meta-iodobenzylguanidine. Neuroblastoma cells absorb this protein, and when it is linked to a small amount of radioactive iodine, it can be used to find neuroblastoma in the bone, bone marrow and other parts of the body. Because the child’s thyroid gland will also absorb radioactive iodine, regular iodine is taken by mouth for several days before the scan to protect the thyroid.

Positron emission tomography (PET) scan. A PET scan is a way to create pictures of organs and tissues inside the body. A small amount of a radioactive substance is injected into a patient’s body. This substance is absorbed mainly by organs and tissues that use the most energy. Because cancer tends to use energy actively, it absorbs more of the radioactive substance. A scanner then detects this substance to produce images of the inside of the body. This test is usually performed for patients who have tumors that do not take up MIBG (see above).

After diagnostic tests are done, your child’s doctor will review all of the results with you. If the diagnosis is neuroblastoma, these results also help the doctor describe neuroblastoma; this is called stages and risk grouping

The next section helps explain the different stages for this type of cancer. Use the menu on the side of your screen to select Stages, or you can select another section, to continue reading this guide.