Juvenile myelomonocytic leukemia

How is JMML diagnosed?

In addition to a complete medical history and physical examination, some diagnostic tests may include:

• bone marrow aspiration and biopsy - Marrow may be removed by aspiration or a needle biopsy under local anesthesia. In aspiration biopsy, a fluid specimen is removed from the bone marrow. In a needle biopsy, marrow cells (not fluid) are removed. These methods are often used together.
• lymph node biopsy - surgical removal of lymph node tissue to examine under a microscope to look for the presence of cancer cells
• chromosomal analysis - additional tests that can help distinguish JMML from other leukemias and help physicians tailor treatment to the specific disease
• complete blood count (CBC) - a measurement of size, number, and maturity of different blood cells in a specific volume of  your child’s blood
• additional blood tests - may include blood chemistries, evaluation of liver and kidney functions and genetic studies
• spinal tap/lumbar puncture - A special needle is placed into the lower back, into the spinal canal. This is the area around the spinal cord. The pressure in your child’s spinal canal and brain can then be measured. A small amount of cerebral spinal fluid (called CSF—the fluid that bathes your child’s brain and spinal cord) can be removed tested for infection or other problems.