How We Diagnose Chronic Myelogenous Leukemia

An accurate CML diagnosis determines the proper course of treatment, so it's 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 hematopathologists 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 test to identify mutations or DNA alterations in 95 genes that are frequently mutated in blood cancers. This test was developed at Dana-Farber Brigham Cancer Center and 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. More than 43,000 patients have consented to have their tumor tissue analyzed for mutations and other cancer-related DNA abnormalities.

Second Opinions

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Consultations and Second Opinions

  • We believe there is great value in patients with suspected or diagnosed chronic myelogenous leukemia consulting with our team to verify or develop a plan of care.
  • We routinely evaluate specimens sent to us from outside centers. These specimens are evaluated by our entire team, including our expert hematopathologists.

Reasons to consider a consultation or second opinion include:

  • To confirm your diagnosis.
  • If you have received a diagnosis elsewhere and want to be treated at Dana-Farber Brigham Cancer Center.
  • To determine the optimal therapy and timing of treatment.
  • To learn more about your cancer from specialists who are world leaders in this disease, and who have treated hundreds of other patients like you.
  • To learn if you're eligible for a clinical trial.

Phone: 617-632-6028 or 617-632-5138

Online: Complete the Appointment Request Form.

If you cannot travel to Boston in person, you can take advantage of our Online Second Opinion service.

For Referring Physicians

Because you, the referring physician, are an integral part of your patient's care team, we are committed to collaborating with you to provide the best care for your patient.

If you are a physician and have a patient with diagnosed or suspected CML, we look forward to working with you. Learn how to refer a patient.