A leukemia diagnosis involves a series of steps and tests that help identify the type and stage of the cancer and guide treatment decisions. The diagnostic process includes:
- Medical History and Physical Exam: A doctor will take a detailed medical history, including any symptoms, family history of cancer, and exposure to risk factors. A physical examination will be conducted to check for signs such as pale skin and swelling of the lymph nodes, liver, or spleen.
- Blood Tests:
- Complete Blood Count (CBC): Measures the number of red blood cells, white blood cells, and platelets. Abnormal levels can indicate leukemia.
- Peripheral Blood Smear: A sample of blood is examined under a microscope to look for leukemia cells.
- Bone Marrow Test (Bone Marrow Aspiration and Biopsy): A sample of bone marrow is taken from the hipbone or another large bone using a needle. This sample is examined for leukemia cells.
- Cytogenetic Tests:
- Karyotyping: This procedure examines the chromosomes in cells from blood, bone marrow, or lymph nodes to identify chromosomal abnormalities.
- Fluorescence In Situ Hybridization (FISH): Detects specific genetic abnormalities in cells.
- Molecular Genetic Tests: Tests for specific gene mutations or changes that are common in certain types of leukemia, such as the BCR-ABL gene in chronic myeloid leukemia (CML).
- Flow Cytometry and Immunophenotyping: These tests help to identify the types of cells involved in leukemia by detecting markers on the surface of the cells.
- Minimal Residual Disease (MRD) Monitoring: MRD monitoring refers to the process of detecting and quantifying the small number of leukemia cells that remain in the body after treatment, even when a patient is in clinical remission, and no cancer cells are visible under a microscope.
- Lumbar Puncture (Spinal Tap): Involves taking a sample of cerebrospinal fluid (CSF) to check for the presence of leukemia cells, particularly if there are symptoms suggesting central nervous system involvement.
- Imaging Tests:
- X-ray: X-rays don’t diagnose leukemia but may give the first signs that something is wrong. An X-ray may indicate osteopenia (thinning of the bone) or enlarged lymph nodes.
- Computed Tomography (CT) Scan: This provides a more detailed cross-sectional image of the body and is more detailed than an X-ray. CT scans are better at showing the size, shape, and position of nodes in the chest or other parts of the body and identifying an enlarged spleen and/or liver.
- Magnetic Resonance Imaging (MRI) Scan: Used to look at the brain and spinal cord when metastasis is suspected. The combination of these tests helps doctors determine the type, subtype, and extent of leukemia, which is crucial for developing an effective treatment plan.
Each of these steps provides essential information that helps tailor the treatment to the individual's specific condition. Depending on the suspected stage and type of the cancer, the process can be quick, involving only a few tests, or extensive. Individuals experiencing leukemia symptoms can obtain a prompt and accurate diagnosis from the GW Cancer Center Malignant Hematology Program’s multidisciplinary team of medical and radiation oncologists, pathologists, and advanced practice providers.