Once a doctor suspects that an individual's blood is abnormal, blood and bone marrow tests are performed to rule out leukemia. Additional tissue samples may be needed to confirm the diagnosis or to help plan treatment.
If an individual has symptoms that suggest leukemia, the doctor may do a physical exam and ask about the personal and family medical history. The doctor also may order laboratory tests, including blood tests.
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.
Computerized tomography (CT): Computed tomography (CT) scan is a computer-assisted x-ray that produces cross-sectional images of the body. CT scans are not often used in leukemia patients unless the doctor suspects that the disease has spread to other organs. In such cases, CT scans may detect changes in the lymph nodes around the heart, trachea (windpipe), or abdomen. Lymph node enlargement is more common in patients with acute or chronic lymphocytic leukemia (ALL, CLL).
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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