Testing & Diagnosis for Neurofibrosarcoma in Children

How is a neurofibrosarcoma diagnosed?

In addition to a complete medical history and physical examination, the most conclusive diagnostic procedure your child will have is a biopsy, which is a single tissue sample taken from the tumor through a simple surgical procedure. The tumor's appearance under a microscope helps doctors to:

  • distinguish it from other types of cancer
  • determine how aggressive the cancer is

Your child may also undergo various imaging studies that will include one or more of the following:

  • x-rays - a test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones and organs onto film x-rays are often the first diagnostic study, and often give the doctor information regarding the need for further testing.
  • magnetic resonance imaging (MRI) - a procedure that uses a combination of large magnets, radiofrequencies and a computer to produce detailed images of organs and structures within your child’s body.  
  • computerized tomography scan (also called CT or CAT scan) - an imaging procedure that uses a combination of x-rays and computer technology to produce cross-sectional images (often called slices)both horizontally and vertically, of the body.  
  • bone scans - a nuclear imaging method to evaluate any degenerative and/or arthritic changes in the joints; to detect bone diseases and tumors; and to determine the cause of bone pain or inflammation.  

Other tests your child’s doctor may order include:

  • complete blood count (CBC) - a measurement of size, number and maturity of different blood cells in a specific volume of blood
  • blood tests - including blood chemistries


Once neurofibrosarcoma has been diagnosed, the tumor is given a “stage,” usually stage I, stage II, stage III or stage IV. This indicates how far the tumor has spread from its original location. The stage helps doctors decide which form of treatment is most appropriate, and predicts how the condition is likely to respond to therapy.

Neurofibrosarcoma may be localized (meaning it has not spread beyond the nerve tissue where it arose) or metastatic (meaning it has spread, in this case usually to the lungs). However, most often, neurofibrosarcoma remains localized.