Leukemia Diagnosis and Staging
Getting an accurate first diagnosis and understanding the stage or progression of your leukemia are crucial steps in your care. Some people are diagnosed during routine blood tests, and others are diagnosed because they’re experiencing symptoms.
How is leukemia diagnosed?
Leukemia affects the bone marrow and blood, so diagnosis starts with a detailed blood analysis and may involve tissue samples and genetic testing.
When you arrive at Columbia, your care team will use a combination of the latest tests to confirm the diagnosis, identify the specific type of leukemia, and understand how the disease is behaving. These results help your care team choose the most effective treatment plan for you.
Types of diagnostic tests for leukemia
- Complete blood count (CBC): A CBC measures the number and appearance of red blood cells, white blood cells, and platelets. Unusually high or low white blood cell counts may be the first clue that leukemia is present.
- Peripheral blood smear: A sample of blood is examined under a microscope to look for abnormal cells.
- Bone marrow aspiration and biopsy: A small sample of fluid (aspiration) and tissue (biopsy) is taken—usually from the hip bone—under local anesthesia. These samples are reviewed under a microscope to look for leukemic cells.
- Lumbar puncture (spinal tap): In some cases, especially with acute leukemias, doctors check the cerebrospinal fluid (CSF) around your brain and spinal cord to see if leukemia cells have spread there.
- Flow cytometry and immunophenotyping: These tests analyze the surface markers on cells to classify leukemia type and help determine the best treatment.
- Cytogenetic and molecular testing: These tests look for changes in chromosomes (like the Philadelphia chromosome in CML) and mutations in genes that can help predict how your disease may behave or respond to treatment.
Your medical history
Your doctor will ask about your personal and family medical history, including:
- Any past cancer treatments (chemotherapy, radiation)
- History of blood disorders
- Environmental exposures (such as benzene or radiation)
- Any genetic conditions that may raise leukemia risk
This helps identify risk factors and provides context for interpreting test results.
Biopsy and confirming a diagnosis
A bone marrow biopsy remains one of the most important tools for confirming leukemia. The sample is examined by a pathologist to check the number and types of abnormal cells. In some cases, biopsies may also be taken from enlarged lymph nodes or other tissues to rule out other conditions.
These diagnostic steps—combined with molecular testing—help classify the leukemia into one of the subtypes.
Staging
Unlike other cancers, leukemia doesn’t form a single mass or tumor, so staging is not based on tumor size or if it has spread. Instead, leukemia staging is based on:
- The number of abnormal cells in the blood or bone marrow
- The presence or absence of symptoms
- Whether leukemia cells have spread to other organs like the liver, spleen, or central nervous system
- The patient’s blood counts (including platelets and red blood cells)
- Chromosomal and genetic changes in the leukemia cells
Staging for chronic leukemias
Chronic lymphocytic leukemia (CLL) has five main stages:
- Stage 0: High lymphocyte count only
- Stage I: Lymphocytosis with enlarged lymph nodes
- Stage II: Enlargement of spleen, or liver
- Stage III - Anemia
- Stage IV: low platelet count
Chronic myeloid leukemia (CML) is divided into three phases:
- Chronic phase: Few symptoms, usually responds well to targeted therapy
- Accelerated phase: Leukemia cells begin to grow more quickly, may show new chromosomal changes
- Blastic phase (blast crisis): A very aggressive phase resembling acute leukemia, with high numbers of immature cells (blasts)
Staging for acute leukemias
Acute leukemias like AML and ALL don’t have traditional “stages.” Instead, they are classified and risk-stratified based on:
- Genetic and molecular features of the leukemia cells
- How the leukemia cells look under the microscope
- Whether the disease has spread to the central nervous system or other organs
- How well the patient responds to initial therapy
This information helps categorize patients into low, intermediate, or high-risk groups, which guides decisions about chemotherapy intensity, transplant eligibility, and clinical trial options.
Why is staging important?
Staging and classification help your doctors:
- Understand how far the disease has progressed
- Choose the most effective treatment strategy
- Predict how the disease may respond to therapy
- Identify if you may benefit from clinical trials or specialized treatments
At Columbia, we prioritize getting you an accurate diagnosis as quickly as possible. Our precise diagnostic abilities allow us to gather detailed staging information and conduct advanced testing to begin tailoring a treatment plan that is specific to you.