
Chronic Lymphocytic Leukemia (CLL): In Detail
This booklet on CLL includes a glossary of terms and details on what to expect during each stage of diagnosis, treatment, and follow-up care.
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An accurate diagnosis for chronic lymphocytic leukemia (CLL) is important to estimate the disease’s progression and determine the appropriate treatment.
Tests your doctor may use to diagnose CLL
Your doctor may use the following tests to diagnose CLL. Open each section below to learn more.
After your doctor or clinician takes your blood, they send it to a lab for a complete blood count (CBC), which shows the number of red cells, white cells, and platelets in your blood.
A person with CLL will have increased numbers of lymphocytes (a type of white blood cell). Low platelet counts and low red blood cell counts may also be present; these counts are usually only slightly decreased in the early stage of the illness.
Patients with enlarged lymph nodes may need a lymph node biopsy to diagnose CLL. A lymph node biopsy is a procedure in which either all or part of a lymph node is removed and examined for signs of infection or disease such as cancer.
Generally, if the red blood cells and platelets are normal, a bone marrow aspiration and biopsy are not necessary to make a diagnosis of CLL. However, these tests may be recommended before treatment begins. The test results can help rule out other diseases during the diagnostic stage and they can also be used later, during treatment, to evaluate the effectiveness of therapy.
Bone marrow testing involves two steps, usually done at the same, time in a doctor's office or a hospital:
- A bone marrow aspiration to remove a liquid marrow sample
- A bone marrow biopsy to remove a small amount of bone filled with marrow
Learn more about bone marrow tests.
View the interactive 3D model to help you visualize and better understand the procedure. Click the "Interact in 3D" button to begin.
https://www.lls.org/3d-model-library/chronic-lymphocytic-leukemia-3d-model]
Prognostic factors for CLL
The following tests are not essential to diagnose CLL but may help predict the likely outcome or “prognosis” for the patient, assess the extent of the disease, and determine if the patient is ready for certain treatments. Numerous markers have been identified that can help segregate patients who have different rates of disease progression requiring therapy.
This test is used to see if there are changes to the chromosomes of the CLL cells. Every cell in the body has chromosomes that contain genes. Genes give the instructions that tell the cell what to do. About 80% of CLL patients who are tested using the FISH test have chromosome abnormalities. Some patients may have leukemia cells with an extra copy of chromosome 12, or they may have 11q, 13q or 17p deletions. The FISH test may give doctors information that will help them plan treatment.
This test uses a microscope to examine the chromosomes of CLL cells. It can provide more complete information about chromosomes than the FISH test.
This test is used to find mutations (changes) in the DNA of CLL cells. Certain mutations are markers that can help doctors identify patients who have higher-risk disease.
CLL chromosome changes
Your doctor will use FISH and other tests to identify chromosome changes. Knowing that a patient has chromosome changes can also help the doctor figure out the best treatment option. Below are some factors that may affect prognosis:
- Del(13q). Some CLL patients are missing parts of chromosome 13 called “del(13q).” This is associated with a favorable outcome (if not associated with any other abnormality).
- Del(17p)/TP53. Some CLL patients are missing parts of chromosome 17 called “del(17p)” which is linked to the mutation of the TP53 gene. Patients with the del(17p)/TP53 mutation have high-risk CLL.
- Del(11q). Some CLL patients are missing parts of chromosome 11 called “del(11q).” This is associated with higher-risk disease.
- +12. Some CLL patients have an extra copy of chromosome 12. This is often associated with an intermediate risk category.
- IGHV. A mutation in the IGHV gene of CLL cells is often associated with a favorable outcome.
- Complex karyotype. A complex karyotype is 3 or more chromosome abnormalities in the CLL cells. A complex karyotype is often associated with high-risk CLL.
CLL staging
Many doctors use a system called staging to help predict the likely outcome of the disease and to plan treatment for people with CLL.
There are three staging systems that doctors use: the Rai staging system, the Binet staging system and the CLL International Prognostic Index (CLL-IPI). Although the Rai and Binet staging systems are still widely used, they have certain limitations in predicting which patients will have a more aggressive disease.
Gene mutations and chromosomal abnormalities of CLL have been integrated into the CLL-IPI to help better predict a patient's risk factors and response to therapy. Talk to your doctor about what staging system they are using and how it can affect your treatment.
Staging systems for CLL consider:
- Abnormal increase in number of lymphocytes (lymphocytosis)
- Presence of enlarged lymph nodes
- Presence of enlarged spleen and/or liver
- Presence of anemia (abnormal decrease in the number of red blood cells)
- Presence of thrombocytopenia (abnormal decrease in the number of platelets)
- Genetic features (CLL-IPL staging system only)
Find more detailed information about CLL staging systems in our free booklet, Chronic Lymphocytic Leukemia: In Detail.
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