Diagnosis
If you have symptoms of ALL, see your doctor as soon as possible, as this disease progresses rapidly. Your doctor will take your medical history and conduct a physical exam to determine what might be causing them. If your doctor suspects ALL, samples of your blood and bone marrow will be taken and checked for signs of the disease. Your doctor may recommend any of the following procedures as part of this process:
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Bone Marrow Aspiration & Biopsy
Your doctor will perform this procedure to get a sample of your bone marrow for further testing. For this test, a doctor or nurse will numb the patient's hip bone and use a needle to extract a small fragment of solid bone and some bone marrow. The doctor will then examine the tissue sample under a microscope and determine if there are any leukemia cells present. This test can be done in the hospital or doctor's office, and most patients can go home right after the test.
Complete Blood Count (CBC)
A complete blood count (CBC) measures the levels of different types of cells in your blood. People with ALL may have too many abnormal lymphoblasts in their blood or a low white blood cell count. These abnormal cells may crowd out healthy blood cells and cause conditions like anemia, leukopenia, and thrombocytopenia.
Peripheral Blood Smear
In this test, a blood specialist will examine a sample of your blood under a microscope. Your doctor will look at the appearance and amount of the different types of cells in your blood and look for any abnormalities that may indicate ALL.
Cytochemistry / Immunocytochemistry
In these tests, special stains or antibodies will be applied to a sample of your blood or bone marrow. These substances react with certain proteins or parts of cells present in leukemia, and produce visible stains that can be seen under a microscope. For example, there is one stain that causes granules (a part of a cell) in leukemic cells to appear as black spots, allowing doctors to distinguish between acute myeloid and lymphoid leukemias.
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Flow Cytometry
Doctors commonly use this test to help diagnose ALL. In this procedure, your doctor will expose a sample of your blood or bone marrow to special antibodies that attach themselves only to certain substances in your cancer cells. Your doctor then moves the sample through a laser beam, which causes the antibodies to light up. This test helps your doctor identify the specific types of cells in your leukemia, helping him get a better idea of the maturity and origin of the cancer cells.
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Lumbar Puncture (spinal tap)
The doctor may perform this DNA test on a sample of your blood or bone marrow. Doctors use this test to detect chromosome abnormalities that cannot be seen under a microscope because they are too small. This test is very sensitive and can detect these abnormalities even if there are very few leukemia cells in the sample.
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Cytogenetic Tests
Your doctor will examine your cancer cells for chromosome changes in order to determine the specific characteristics and subtype of your disease. Chromosomes are the genetic material in your cells. In most cases, these chromosome or genetic changes are only in the cancer cells, not in your normal cells. For these tests, your doctor will grow a sample of bone marrow cells in the laboratory and examine the chromosomes under a microscope once the cells start dividing. Cell division is the easiest time to see the chromosomes.
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Fluorescent in situ hybridization (FISH)
Doctors also use this test to detect changes in the chromosomes and DNA of your blood or bone marrow samples. Your doctor will expose the sample to special dyes that will bind to specific parts of certain chromosomes. These dyes help your doctor detect any abnormalities in the chromosomes known to play a role in ALL. This test is much faster than cytogenetics tests because the cell sample doesn't have to be grown in a lab.
Polymerase Chain Reaction (PCR)
The doctor may perform this DNA test on a sample of your blood or bone marrow. Doctors use this test to detect chromosome abnormalities that cannot be seen under a microscope because they are too small. This test is very sensitive and can detect these abnormalities even if there are very few leukemia cells in the sample.
Additional Molecular Testing
Genomic changes in cancer cells are changes in the DNA sequence that makes up the code for genes that can affect the way a cell functions. These changes can be associated with the development of cancer, and may also be used to make treatment choices for your cancer. Doctors may use additional methods to test your cancer cells for specific molecular abnormalities or genetic mutations that have been seen in patients with ALL. This may include a method called:
