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Diagnosis of Leukemia

Certain symptoms may indicate possible leukemia, such as swollen lymph nodes in the armpits, groin, and neck, as well as unusual bruising, infections, or signs of anemia. Your doctor will ask about your symptoms, and family and medical history. Your abdomen will be thoroughly examined for signs of swelling in the liver or spleen. If there are no other obvious reasons for these symptoms, the doctor may suspect a blood disorder.

Diagnosis of Leukemia

Blood Tests

Blood tests may be the first indication of a blood disorder, or it may be done after the physical symptoms above are noted. Blood tests can include:

  • Complete blood count—Measures the number of red blood cells, white blood cells, and platelets.
  • Blood smear—Examines a drop of blood under a microscope to look for abnormalities of the blood cells. It can also show the number of each type of blood cell and the number of immature and mature cells. The findings can differ based on the type of leukemia. For example:
    • Acute lymphoblastic leukemia (ALL)—Too many immature white blood cells and not enough red blood cells or platelets.
    • Acute myeloid leukemia (AML)—Too many immature white blood cells, especially myeloblasts, which are not normally found in the blood. There are too few red blood cells or platelets.
    • Chronic lymphocytic leukemia (CLL)—Too many lymphocytes, a type of white blood cell. There may not be enough red blood cells and platelets.
    • Chronic myeloid leukemia (CML)—Too many white blood cells with a lot of immature cells. There may be low numbers of red blood cells or platelets.
Bone Marrow Aspiration and Biopsy

The findings from the blood tests can suggest leukemia, but a bone marrow test is usually done to confirm the diagnosis.

A bone marrow aspiration removes a sample of bone marrow from the bone. In most cases, the sample is taken from the hipbone. A needle is inserted through the bone and the marrow is removed with a syringe. A piece of bone may also be removed for biopsy.

Both marrow and bone sample will be examined under a microscope to look for the presence of abnormal blood cells (cancer).

Leukemia Characteristics

If leukemia is confirmed, results from completed tests and new tests will help determine details about the leukemia that will be used to guide your treatment plan and make a prognosis. Treatment and outcomes also depend on other factors, such as age and overall health.

Tests that may help determine leukemia characteristics:

  • Lumbar puncture—To look for signs of leukemia in the brain and spinal fluid.
  • Microscopic evaluation of the cells—To help classify the type of leukemia and look for specific genetic changes.

Acute leukemias are aggressive from the very beginning. They involve bone marrow sites throughout the body and cancer cells have often spread to other organs. Doctors classify these leukemias by type and subtype in an attempt to determine the prognosis and a recommended level of treatment.

Chronic leukemias have a longer, less aggressive course. Over time, they may develop more aggressive characteristics as the cells making up the leukemia become more immature. As a result, chronic leukemias are classified by the type and phase in which the disease is at the time.

In the United States, CML uses a Rai classification to describe the phases of the illness:

  • Rai Stage 0 (low risk)—High white blood cell count WITHOUT enlarged lymph nodes, liver, or spleen AND near-normal ranges of red blood cells and platelets.
  • Rai Stage 1 (intermediate risk)—High white blood cell count AND enlarged lymph nodes WITHOUT enlarged liver or spleen and near-normal ranges of red blood cell and platelets.
  • Rai Stage 2 (intermediate risk)—High white blood cell count AND enlarged spleen, possibly enlarged liver WITH or WITHOUT enlarged lymph nodes and near-normal ranges of red blood cells and platelets.
  • Rai Stage 3 (high risk)—High white blood cell count AND low red blood cell count WITH or WITHOUT enlarged lymph nodes, liver, or spleen.
  • Rai Stage 4 (high risk)—High white blood cell count AND low platelet count WITH or WITHOUT low red blood cell count, or enlarged lymph nodes, liver, or spleen.

Revision Information

  • Acute leukemia overview. Merck Manual Professional Version website. Available at: http://www.merckmanuals.com/professional/hematology-and-oncology/leukemias/acute-leukemia-overview. Updated October 2014. Accessed February 2, 2016.

  • Acute lymphoblastic leukemia/lymphoma (ALL). EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated December 21, 2015. Accessed February 2, 2016.

  • Acute myeloid leukemia (AML). EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated July 31, 2015. Accessed February 2, 2016.

  • Chronic lymphocytic leukemia (CLL)/small lymphocytic leukemia (SLL). Available at: http://www.ebscohost.com/dynamed. Updated November 5, 2015. Accessed February 2, 2016.

  • Chronic myeloid leukemia. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated March 19, 2015. Accessed February 2, 2016.

  • Davis AS, Viera AJ, Mead MD. Leukemia: an overview for primary care. Am Fam Physician. 2014;89(9):731-738.

  • Stages of adult acute lymphoblastic leukemia. National Cancer Institute website. Available at: http://www.cancer.gov/types/leukemia/patient/adult-all-treatment-pdq#section/%5F123. Updated September 17, 2015. Accessed February 2, 2016.

  • Stages of adult acute myeloid leukemia. National Cancer Institute website. Available at: http://www.cancer.gov/types/leukemia/patient/adult-aml-treatment-pdq#section/%5F164. Updated September 17, 2015. Accessed February 2, 2016.