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How We Diagnose Chronic Myelogenous Leukemia

  • David A. Frank, MD, PhD, in his lab


    Physician-scientist David Franks, MD, PhD, is a senior Dana-Farber clinician and associate professor of Medicine at Harvard Medical School. His research helps to bring new targeted therapies for leukemia and other cancers from the laboratory to clinical trials.

  • An accurate CML diagnosis determines the proper course of treatment, so it important to be seen at — or consult with — a large treatment center like our Adult Leukemia Program, which diagnoses many patients with this kind of cancer. Our clinicians and hemopathologists have a tremendous amount of expertise in the diagnosis and management of this disease.

    We use a variety of highly specialized tests, including pathology, flow cytometry, immunohistochemistry, cytogenetics, and molecular profiling. We integrate the findings from all of these tests to make an accurate and timely diagnosis.

    Initial Diagnosis

    A complete blood count test is usually the first clue about a potential diagnosis. If the results are suspicious, a patient will undergo a bone marrow aspiration biopsy and aspirate to evaluate the bone marrow. This test is done to determine the phase of CML and to help doctors determine appropriate medication, and whether a stem cell transplant should be considered as a treatment option. This procedure is done in the office or the hospital room, and involves using a local anesthetic to numb the posterior iliac crest (back of the hip). Then a needle is used to obtain a liquid sample and a core biopsy sample of the marrow.

    Other tests include:

    Cytogenetic Analysis

    This is a test in which cells in a sample of blood or bone marrow are examined under a microscope to look for certain changes in the chromosomes, such as the Philadelphia chromosome.

    FISH (Fluorescence In Situ Hybridization)

    This test looks for gene or chromosome abnormalities in cells and tissues. It is done to find the number of cells that have the Philadelphia chromosome or contain the BCR-ABL fusion gene.

    Polymerase Chain Reaction (PCR)

    This extremely sensitive blood test can detect the BCR-ABL gene. This test may also be performed during treatment to evaluate how well the treatment is working.

    Molecular and Genomic Tests

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

    • Our patients may benefit from the 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.
    • With OncoPanel, our scientists are creating one of the world's largest databases on the genetic abnormalities that drive the development of tumors. More than 43,000 patients have consented to have their tumor tissue analyzed for mutations and other cancer-related DNA abnormalities.