Diagnosing Chronic Lymphocytic Leukemia

NYU Langone doctors use the results of sophisticated blood and tissue tests to diagnose chronic lymphocytic leukemia (CLL), a cancer of the blood and bone marrow. Bone marrow, the soft tissue at the center of bones, is where blood cells are made. In people with chronic lymphocytic leukemia, the bone marrow makes lymphocytes—a type of white blood cell that fights infection—that do not mature into healthy white blood cells. Instead, they multiply in the bone marrow and travel to the bloodstream, where they continue to divide.

Because these abnormal lymphocytes do not become healthy white blood cells, people with chronic lymphocytic leukemia may have a greater risk of developing bacterial, viral, and fungal infections throughout the body.

Too many cancerous lymphocytes in the blood and bone marrow can decrease the number of healthy red blood cells, which carry oxygen to tissues and organs. This can lead to anemia, a condition that results in fatigue, shortness of breath, and pale skin.

The presence of too many cancerous lymphocytes can also reduce the number of platelets, blood cells that help with clotting, leading to increased bleeding. As a result, people with chronic lymphocytic leukemia may develop petechiae, which are red, flat, pinpoint spots under the skin caused by bleeding.

As abnormal lymphocytes multiply, they may collect in the lymph nodes, causing swelling in these small glands, which are part of the immune system and located throughout the body. People with chronic lymphocytic leukemia may have noticeably swollen lymph nodes on either side of the neck, above the collarbone, under the arms, or around the groin.

Cancerous lymphocytes may also accumulate in and enlarge the spleen, an organ in the upper left part of the abdomen that filters blood. An enlarged spleen can press on the stomach and cause a person to feel unusually full.

Often, people with chronic lymphocytic leukemia experience no symptoms. Their doctors typically detect abnormal blood cell levels as part of a routine physical exam.

Chronic lymphocytic leukemia can progress slowly for many years, with abnormal lymphocyte levels remaining relatively low. When lymphocyte levels rise quickly, this may indicate that the disease is progressing more rapidly. For this reason, chronic lymphocytic leukemia needs to be closely monitored and managed throughout your lifetime.

Although the causes are not completely understood, having a first-degree relative (such as a parent or sibling) with this form of cancer can increase your risk of developing it. Exposure to Agent Orange, an herbicide used during the Vietnam War, has also been shown to increase risk. This type of cancer is the most common form of leukemia in older adults.

In addition to performing a physical exam and asking about your medical history and any symptoms you may be experiencing, oncologists and hematologists who specialize in treating blood disorders may request several tests to diagnose chronic lymphocytic leukemia and to determine how quickly the disease is progressing.

Blood Tests

NYU Langone doctors use the results of blood tests to diagnose chronic lymphocytic leukemia. For example, pathologists look for high levels of abnormal lymphocytes circulating in the blood, resulting in lower levels of red blood cells and platelets.

They can then use additional testing to see if abnormal lymphocytes have certain substances or proteins on their surface. This step helps confirm the diagnosis of chronic lymphocytic leukemia and determine the treatment plan. Your doctor may also order special molecular studies of the blood cells to look for genetic mutations. These tests help doctors predict how rapidly the chronic lymphocytic leukemia may advance and whether certain medications may be more useful than others when the time for treatment arrives.

Bone Marrow Aspiration and Biopsy

Typically, blood tests provide all the information needed to diagnose and determine how to begin treatment for chronic lymphocytic leukemia. In some cases, our doctors may conduct a bone marrow aspiration and biopsy, in which a small portion of your bone and bone marrow are removed for testing. Cells in the bone marrow rapidly divide, making genetic information readily available for analysis.

To perform an aspiration, doctors use a needle to withdraw liquid from the bone marrow in the back of your pelvis. During a bone marrow biopsy, your doctor removes a piece of bone and solid marrow from this same area. These samples are then evaluated using the same molecular and genetic tests that were used on the blood to see if cancer is present.

Bone marrow aspiration and biopsy require local anesthetic and may be conducted either in the doctor’s office or in the hospital. You can go home the same day as the biopsy.

Lymph Node Biopsy

Many people with chronic lymphocytic leukemia develop swollen lymph nodes, which your doctor may feel during a physical exam. Occasionally, the doctor may need to perform a lymph node biopsy to determine that a node is swollen due to chronic lymphocytic leukemia and not some other condition.

Surgical Biopsy

Our doctors can obtain the most amount of tissue for molecular and genetic testing by fully removing a lymph node. This procedure takes place in the hospital and requires a surgical incision. Swollen lymph nodes identified during physical exams may be removed and evaluated under a microscope. This surgery may require general or local anesthesia, and usually you can go home the same day.

Needle Biopsy

Sometimes surgery is not possible, often because the swollen lymph node is near important blood vessels or nerves, which makes it difficult to reach. In this case, your doctor may use a less invasive technique, removing a smaller tissue sample with a needle.

Fine needle aspiration, in which your doctor uses a small needle to withdraw fluid and cells from a lymph node, is one option. An alternative is a core needle biopsy, in which your doctor uses a larger needle to remove a bigger portion of tissue. If the lymph node is near important blood vessels and nerves, your doctor may conduct the biopsy with image guidance, using a CT scan, which is a type of X-ray, or an ultrasound, which uses sound waves to create pictures on a monitor.

A local anesthetic is used for this procedure, which can often be performed in the doctor’s office, allowing you to return home that same day.

Next Steps

Depending on the results of this testing, our doctors may suggest closely monitoring the condition or starting a customized treatment plan based on the genetic features of the disease.