If leukemia is suspected based on symptoms and initial blood work, your child should be referred to a regional children’s hospital that can provide the comprehensive services needed. At the children’s hospital, bone marrow is sampled and tested (see Chapter 9, Coping with Procedures). The bone marrow is examined under a microscope by a pathologist (a physician who specializes in body tissue analysis). A portion of the bone marrow and the chloroma biopsy, if done, undergoes other sophisticated tests to check the leukemia cells for genetic changes. The results help the doctors determine the type of AML and treatment options. A lumbar puncture (also called spinal tap) is also done to see whether leukemia cells are present in the cerebrospinal fluid.

An essential part of the diagnostic process is identifying whether the cancer is acute lymphoblastic leukemia (ALL), AML, or APL because the treatments for these diseases are very different. There also are many subtypes of AML in children, which affect both prognosis and the type of treatment needed. For example, children with Down syndrome or APL have very different treatment plans than children with other forms of AML.

To see a long list of specific genetic abnormalities found in cancer cells of children with AML, visit the National Cancer Institute’s webpage about childhood AML at https://www.cancer.gov/types/leukemia/hp/child-aml-treatment-pdq and then click on the section called “Classification of Pediatric Myeloid Malignancies.”

My daughter Gabby was a 13-year-old eighth grade student when she was diagnosed with AML with the FLT 3 oncogene (putting her into the very high risk category). She had some bruising, but she is an active tomboy who frequently had bruises. In January, during flu season, she had a bellyache and vomiting. By Sunday, the belly pain was severe and we took her to the ER. The doctor said, “She either has appendicitis or leukemia.” They did more tests, said she had leukemia, and asked which of the closest children’s hospitals (not really close, each was almost 500 miles away) we wanted to go to. She was airlifted there and the journey began.

APL is distinguished from other forms of AML by identifying a chromosomal translocation called t(15;17) and testing for a type of protein called PML-RARA fusion. Approximately 12% of children and teens with AML are diagnosed with the APL subtype. APL is most commonly diagnosed in children ages 9 to 11.