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How We Diagnose Acute Lymphoblastic Leukemia

  • Richard Stone, MD, and nurse Ilene Galinsky, RN, BSN, NP, with patient


    Richard Stone, MD, and nurse Ilene Galinsky, RN, BSN, NP, with a patient

  • ALL is rare in adults, so it is important to be seen at a comprehensive treatment center like our Adult Leukemia Program, with experience in obtaining a timely diagnosis. Our team of clinicians, pathologists, and radiologists has a tremendous amount of expertise in this area.

    We use a variety of highly specialized tests, including pathology, flow cytometry, and molecular profiling. We integrate the findings to make an accurate and prompt diagnosis.

    Initial Diagnosis

    A complete blood count is usually the first clue about a potential diagnosis. If findings are suspicious, a patient will undergo a bone marrow biopsy and aspirate to evaluate the bone marrow. 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). A needle is then used to obtain a liquid sample and a core biopsy sample of the marrow. This test allows the physicians and pathologists to most accurately diagnosis ALL. We conduct cytogenetic and molecular analyses from the aspirate.

    Other tests include:

    Spinal Tap or Lumbar Puncture

    In this procedure, a small needle is placed into the lower back, and a small amount of cerebral spinal fluid is removed. This sample is tested for leukemia cells to determine if the leukemia has spread to the central nervous system. At the same time, a small amount of chemotherapy may be injected into the central nervous system to prevent leukemia cells from getting into the spinal fluid.

    Molecular and Genomic Tests

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

    • Our patients have access to the Rapid Heme Panel, which uses next-generation sequencing 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 enables us to make treatment decisions quickly.
    • Our scientists are creating one of the world's largest databases on the genetic abnormalities that drive the development of tumors using OncoPanel. More than 43,000 patients have consented to have their tumor tissue analyzed for mutations and other cancer-related DNA abnormalities.
    • We use flow cytometry to determine minimal residual disease (MRD) at critical time points during the treatment to help guide treatment decisions.