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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

  • How is Acute Lymphoblastic Leukemia Diagnosed?

    ALL is a rare disease in adults so it is important to be seen at a high-volume leukemia program like Dana-Farber Brigham Cancer Center where clinicians and pathologists are familiar with your condition. Diagnosis is generally through a bone marrow biopsy or a lymph node biopsy. Our hematopathologists (pathologists who specialize in blood disorder) apply highly specialized tests including pathology, flow cytometry, and various genetic profiling techniques to fully characterize your disease. Your diagnostic tests are conducted on site and returned rapidly to your clinician who can interpret the results and make a personalized treatment recommendation. Your clinician may discuss treatments including chemotherapy, clinical trials, and/or transplant referral as appropriate. Our team of clinicians and pathologists have tremendous expertise in ALL and work together closely.

    Initial Diagnosis

    A diagnosis of leukemia is usually suspected based on symptoms and abnormal blood counts. If findings are suspicious, a patient will typically undergo a bone marrow aspirate and biopsy to evaluate the bone marrow (the blood factory) to confirm the diagnosis.

    Bone Marrow Biopsy. This procedure is done in the office or the hospital room. A clinician uses local anesthetic to numb the posterior iliac crest (back of the hip). A needle is used to obtain a liquid aspirate sample and a small core biopsy sample of the bone marrow. The samples obtained are analyzed by specialized hematopathologists to confirm the diagnosis and conduct various tests to characterize your disease.

    Molecular and Genomic Tests. We have unique expertise in interpreting genetic tests and translating that data into an action plan. Often, patients are eligible for certain clinical trials based on the characteristics of their disease.

    • Cytogenetic analysis – Rapid, on-site analysis of your chromosomes.
    • Molecular profiling – Our patients have access to several molecular tests run on site. These include BCR-ABL fusions assays to identify the Philadelphia Chromosome. In addition, the Rapid Heme Panel uses next-generation sequencing to identify single mutations or DNA alterations in 95 genes that are frequently mutated in blood cancers. The Rapid Heme Panel is the most comprehensive, swiftest blood cancer mutation test available today. This test was developed at Dana-Farber Brigham Cancer Center and is available only to our patients. It provides results in a matter of days, which enables us to make treatment decisions quickly.
    • Flow Cytometry – We use flow cytometry to determine minimal residual disease (MRD) at critical time points during the treatment to help guide treatment decisions.

    Other common tests include:

    Lymph Node or Tissue Biopsy. In some patients, ALL presents in places other than the bone marrow and may require a biopsy.

    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 treat any leukemia cells that might be present in the spinal fluid.

    A quick and accurate diagnosis is important so you can begin treatment for ALL right away. Call 617-632-6028 to schedule an appointment.