Diagnosis

To make or confirm a diagnosis of neuroblastoma, we give your child a complete physical exam and carry out specialized tests that can help us understand how extensive the disease may be. We often also use these same tests and imaging scans to determine how well a tumor is responding to treatment.

Diagnostic tests we may conduct include the following.

We use imaging tests such as CT scans and MRI to determine if the neuroblastoma tumor is indeed present. These tests are also helpful for getting information on exactly where in the body the tumor is located and what size and shape it is.

To identify where and to what extend the neuroblastoma tumor has spread through the body — if at all — we may recommend that your child have a nuclear imaging test called a metaiodobenzylguanidine (MIBG) scan. For this test, we inject MIBG, a radioactive substance known to attach to neuroblastoma cells, into your child’s vein. Twenty-four hours later, after the very small amount of radioactive medicine in the injection has had time to mix with blood and spread throughout the body, we perform a scan.

During a biopsy, we surgically remove a sample of cells or tissue. A pathologist then examines this tissue to see if neuroblastoma or other cancer cells are present. We also test for specific abnormalities in the neuroblastoma cells and for a factor that can affect how high-risk the disease is determined to be.

Neuroblastoma cells produce chemicals called HVA and VMA, very high levels of which usually indicate that this cancer is present. We’ll collect your child’s urine over the course of four to 24 hours to measure the level of these chemicals.

To determine if neuroblastoma has spread to your child’s bones, we may order a bone marrow biopsy or aspiration (from the liquid part of the marrow.) As part of this test, we remove a small sample of tissue, typically through the hip bone, and then test the sample in the laboratory for the presence of neuroblastoma cells.

Newly Diagnosed Neuroblastoma

We combine information about the stage of your child’s neuroblastoma with genetic information about the tumor and the type of neuroblastoma cells involved. This helps us determine if your child’s condition is low risk, intermediate risk, or high risk, and then formulate a treatment plan.

  • Low-risk neuroblastoma usually involves infants and children who have very small tumors that can easily be removed through surgery.
  • Intermediate-risk disease is typically diagnosed in children who have larger tumors that haven’t spread to other parts of the body, or children younger than 18 months old whose tumors also haven’t spread.
  • High-risk neuroblastoma includes disease that has spread and is diagnosed after 18 months of age, as well as patients with tumors found to contain the genetic characteristic known as MYCN amplification (regardless of age or whether the disease has spread).