How is leukemia diagnosed?

Most frequently, patients with suspected leukemia present with one or more symptoms to their primary physician, who orders a complete blood count, which is often (though not always) markedly abnormal. This finding will generally prompt a referral to a hematologist, a doctor who specializes in diseases of the blood. Most commonly in the United States, these doctors are also medical oncologists who are trained to treat most types of cancers. In addition to specialized blood tests, the hematologist/oncologist will usually perform a bone marrow biopsy. During this outpatient procedure, after numbing the area, the doctor places a needle into the back of the hip bone or pelvis (usually) to take a sample from deep inside the bone. This fragment of bone and aspirate of bone marrow liquid are then sent to a laboratory for pathologic analysis, which may include chromosomal testing. The pathologic review helps to determine the presence or absence of leukemia, as well as the subtype to guide treatment.

Bone marrow tests: The bone marrow is sampled by a technique known as bone marrow aspiration. During this procedure, a thin, hollow needle with a syringe attachment is used to suction up (aspirate) a teaspoon-sized sample of liquid bone marrow from the back of the hip bone. A larger needle is then employed to obtain a bone marrow biopsy ("core" biopsy), which removes roughly a 1/16 inch cylindrical piece of bone marrow from the hip site. After the bone marrow samples are obtained, they are examined by many physician specialists, including a pathologist (disease diagnosis specialist, who examines samples under a microscope), hematologist (blood specialist), and oncologist (cancer specialist). The individual is generally awake during the procedure, but local anesthetics (such as lidocaine) and sedatives (such as midazolam or Versed®) may be administered. There is usually no pain involved.

Cytogenetic analysis: Cytogenetic analysis detects changes in the chromosomes, including the presence of the Philadelphia chromosome (a genetic abnormality that can lead to leukemia). It can be done using a regular microscope or a more modern lab technology called fluorescence in situ hybridization (FISH). Blood will be drawn from the individual and analyzed for the genetic abnormality.

X-ray: X-rays are used to see whether there are enlarged lymph nodes in the chest, localized masses in the lungs, or evidence of spreading to the outer bones or joints.

Magnetic resonance imaging (MRI): Magnetic resonance imaging (MRI) scan is a procedure that uses electromagnets and radio waves to create computer-generated pictures of the internal organs. MRI may be used if the doctor suspects that leukemia involves the brain or lungs.

Radionuclide scan: A radionuclide scan may be performed to rule out non-leukemic disorders in individuals who complain of bone pain. The radiologist injects the individual with a radioactive chemical (such as gallium-67), which will accumulate in areas of infection or malignancy and can be viewed with a special camera. This procedure is not used for individuals who already have been diagnosed with leukemia.

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Tests to diagnose leukemia: If your doctor suspects leukemia, he or she may:

• Ask about your medical history.
• Check for enlarged lymph nodes in your neck, underarm or groin.
• Check for an enlarged liver or spleen.
• Do a complete blood count (CBC) and a blood profile. These tests let your doctor look into symptoms such as fatigue, weakness, fever, bruising or weight loss.
• Do a bone marrow aspiration and biopsy. This is the key to diagnosing most leukemias and helps determine the type.

Finding the type of leukemia: If your blood work points to possible leukemia, your doctor will want to find out what kind you might have. Your treatment plan will depend on the specific kind of leukemia that you have. A blood test is usually enough to find signs of chronic lymphocytic leukemia (CLL). Tests that look closely at unusual cells, chromosomes, or proteins on cells can show what type or subtype of leukemia you have. These tests include:

• A test that looks for certain changes in the cell chromosomes from a sample of blood or bone marrow (cytogenetic analysis).
• A test that compares cancer cells to normal blood cells to find the specific kind of leukemia (immunophenotyping).
• A test to look for genes that are "turned on" in several types of leukemia, such as acute promyelocytic leukemia. This test is called a reverse transcription-polymerase chain reaction test, or RT-PCR.

These tests can help guide treatment. Sometimes they can help your doctor and you know whether your leukemia is likely to go into remission or come back. In some cases, the tests can predict survival rates.

Your doctor may also order other tests, including:

• Chest X-rays, to find out if leukemia or an infection is the cause of lung problems such as persistent coughing, coughing up blood, chest pain or trouble breathing.
• CT scan of the head, chest and belly, to find out if leukemia has spread there.
• Lumbar puncture, to find out if leukemia cells are in your cerebrospinal fluid (CSF).
• MRI of the brain, to look into symptoms such as confusion, paralysis, numbness, vision problems, vertigo or headaches. Those symptoms could mean that leukemia has spread to the brain.
• A biopsy of a lymph node or other tissues, to look for leukemia cells.