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How We Diagnose Acute Myeloid Leukemia

  • Daniel J. DeAngelo, MD, PhD, with patient

    Daniel J. DeAngelo, MD, PhD, Director of Clinical and Translational Research, consults with a patient

  • AML is a rare blood cancer, and most patients with AML are treated in specialized centers. At the Dana-Farber/Brigham and Women's Cancer Center (DF/BWCC) Adult Leukemia Program, our clinicians and pathologists have a tremendous amount of expertise in this area.

    We use a variety of highly specialized tests, including molecular profiling (an assessment for DNA mutations). This is important, since even within the same diagnosis, the specific mutation "profile" of a cancer can predict very different outcomes. We integrate all of the findings to make an accurate diagnosis and determine the optimal treatment plan.

    Initial Diagnosis

    A complete blood count is usually the first clue about a potential diagnosis of AML. Patients with suspected AML will undergo a bone marrow biopsy and aspirate to evaluate the bone marrow. This procedure is done in an office or hospital room, and involves using a local anesthetic to numb the posterior iliac crest (back of the hip). A needle is then used to obtain a liquid sample and a core biopsy sample of the marrow. This test allows the physician to most accurately diagnose AML.

    Other tests include:

    Cytogenetic Analysis

    In this laboratory test, the cells in a sample of blood or bone marrow are examined to look for certain changes in the chromosomes.

    We have unique expertise in interpreting molecular (genomic) tests and translating that data into an action plan.

    • Our patients have access to a Rapid Heme Panel — a next-generation sequencing tool to identify single mutations or DNA alterations in 95 genes that are frequently mutated in blood cancers, making it the most comprehensive, swiftest blood cancer mutation test available today. This test was developed at DF/BWCC and is available only to our patients. It provides results in a matter of days, which helps inform treatment decisions.
    • With OncoPanel, our scientists are creating one of the world's largest databases on the genetic abnormalities that drive the development of tumors. Tens of thousands of patients have consented to have their tumor tissue analyzed for mutations and other cancer-related DNA abnormalities.

    Abnormalities found in the in blood and bone marrow biopsy, as well as factors from the cytogenetic analysis and molecular genetic findings, help determine prognosis and whether you would benefit from certain therapies.