Neuroblastoma Diagnosis

To confirm that you have neuroblastoma, your doctor will recommend the following medical procedures:

  • Physical exam and history – during this physical exam, your doctor will look for signs indicating the disease: abdominal pain, swollen belly, swollen legs, swollen face, etc. in addition, he will check your medical history, which can give a better idea on how to approach the diagnosis.
  • Urine test – a twenty-four-hour urine test can be performed to detect an increased amount of homovanillic acid (HMA) and vanillyl mandelic acid (VMA), two substances indicators of neuroblastoma.
  • Blood test – during this exam, a lab specialist will collect your blood sample to perform laboratory analysis.  He will search for abnormal amount of substances which can be a sign of neuroblastoma. In the case of neuroblastoma, the exam can reveal an increased amount of the hormones dopamine and norepinephrine. Although an amount higher than normal does not automatically confirm the diagnosis, it is, however, a red flag.
  • Abdominal Ultrasound – this imaging technique allows your doctor to visualize your internal organs, and detect the tumor. In addition, an abdominal ultrasound can be used as a guide to perform a biopsy of the tumor mass.
  • Biopsy of the tumor – this procedure consists of removing sample of cells or tissue of the tumor to be studied under a microscope. In general, the diagnosis of neuroblastoma requires confirmation by biopsy. In addition, the biopsy is also necessary to investigate the presence or absence of amplification of N-myc in the tumor cells.
  • Bone marrow aspiration and biopsy – this procedure is performed under anesthesia. Your surgeon removes a small piece of bone marrow, blood, and bone by inserting a hollow needle into your hipbone or breastbone. The samples are then examined under a microscope by a pathologist to look for cancer cells.

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