Understanding Your Diagnosis: An Overview of Leukemia

Leukemia is a type of cancer that begins in the blood-forming tissues, most often the bone marrow. It is characterized by the overproduction of abnormal white blood cells. These cancerous cells, called leukemic blasts, don't mature properly and can't perform their usual function of fighting infections. As they multiply, they can crowd out healthy blood cells (red blood cells, platelets and normal white blood cells) leading to complications like anemia, bleeding and increased risk of infection.

Unlike solid tumors (like breast or lung cancer), leukemia is a blood cancer that doesn't form a mass. Instead, it circulates in the bloodstream and can spread to other parts of the body, including the lymph nodes, spleen, liver and central nervous system. Leukemia is broadly categorized based on how quickly it progresses (acute or chronic) and the type of white blood cell affected (lymphocytic or myeloid).

“Leukemia affects blood cells, particularly the white blood cell count, the red blood cell count and the platelet and subsequently, the patient can develop symptoms and signs that are related to either very high levels of these blood counts or very low levels,” Dr. Firas El Chaer, chief of Leukemia and medical director of Infusion Services at Baptist Health Miami Cancer Institute, said in an interview with CURE.

• Acute Lymphocytic Leukemia (ALL): A fast-growing cancer of the lymphoblasts (immature lymphocytes). It is the most common type of childhood leukemia.
• Acute Myeloid Leukemia (AML): A fast-growing cancer of the myeloblasts (immature myeloid cells). It is the most common acute leukemia in adults.
• Chronic Lymphocytic Leukemia (CLL): A slow-growing cancer of the B-lymphocytes. It is the most common chronic leukemia in adults.
• Chronic Myeloid Leukemia (CML): A slow-growing cancer that begins in the myeloid cells and is characterized by the presence of a specific genetic abnormality called the Philadelphia chromosome.

How is Leukemia Diagnosed?

A diagnosis of leukemia usually begins when a routine blood test shows abnormal cell counts or when a patient experiences symptoms such as fatigue, easy bruising or frequent infections. The diagnostic process involves several tests to confirm the presence of leukemia, determine its specific type and assess its extent.

• Blood Tests: These tests, including a complete blood count (CBC) and a peripheral blood smear, check the number and appearance of different blood cells. Abnormal findings, such as very high or low white blood cell counts, may indicate leukemia.
• Bone Marrow Biopsy and Aspiration: This is a key diagnostic test. A small sample of bone marrow (and a small amount of liquid bone marrow) is taken, usually from the hip bone, to be examined under a microscope for cancerous cells.
• Cytogenetic and Molecular Tests: These tests are performed on the blood and bone marrow samples to identify specific chromosomal and genetic changes in the leukemic cells. For example, detecting the Philadelphia chromosome is crucial for diagnosing CML. These findings are important for determining prognosis and guiding treatment decisions.
• Immunophenotyping: This test uses special markers to identify the specific type of leukemia cell, helping to distinguish between ALL and AML and to classify subtypes within each.

Leukemia Treatment Options

“The treatment of leukemia has evolved enormously in the past decade or so. Previous to that, there were very few drugs which we could use to treat leukemia, and they mostly relied on old school chemotherapy. We still definitely use those,” El Chaer added during his interview.

The treatment for leukemia is highly personalized and depends on the specific type and stage of the disease, as well as the patient's age and overall health. The primary goal is to destroy the leukemic cells and restore normal bone marrow function. For early-stage leukemia, particularly CLL and some cases of CML, a “watch and wait” approach may be an initial option. Otherwise, here are some common treatments.

• Chemotherapy: This is the cornerstone of leukemia treatment. It involves using powerful drugs to kill rapidly dividing cells, including cancer cells. For acute leukemias, treatment is often divided into phases:
• Induction Chemotherapy: The initial, intensive phase designed to achieve remission (destroying most of the leukemic cells).
• Consolidation/Intensification Chemotherapy: A second phase to kill any remaining cancer cells and prevent a relapse.
• Maintenance Chemotherapy: A long-term, lower-dose phase for some types of leukemia to maintain remission.
• Targeted Therapy: These drugs specifically target the molecular changes that allow cancer cells to grow and survive, while sparing healthy cells. A prime example is tyrosine kinase inhibitors (TKIs), which have revolutionized the treatment of CML by targeting the protein produced by the Philadelphia chromosome.
• Stem Cell Transplant (SCT): This procedure is also known as a bone marrow transplant. It is an intensive treatment used to treat certain types of leukemia. A patient receives high doses of chemotherapy (and sometimes radiation) to destroy all cancer cells and bone marrow. Then, healthy blood-forming stem cells, either from a matched donor (allogeneic) or from the patient's own body (autologous), are infused to help the bone marrow recover and produce new, healthy blood cells.
• Immunotherapy: This approach uses the body's own immune system to fight cancer. Examples include:
• Monoclonal Antibodies: Lab-made proteins that can attach to specific targets on leukemia cells, marking them for destruction by the immune system.
• CAR-T cell Therapy: A revolutionary treatment that involves collecting a patient's own T cells (a type of immune cell), genetically modifying them in a lab to recognize and attack cancer cells and then reinfusing them back into the patient.

Common Treatment-Related Side Effects

Leukemia treatments can cause various side effects, and it's essential to discuss them with your oncologist, as many can be managed with supportive care.

• Fatigue: Feeling tired and lacking energy is a very common side effect of both the disease and its treatments.
• Low Blood Counts: Chemotherapy can suppress the bone marrow, leading to a low number of red blood cells (anemia), white blood cells (neutropenia), and platelets (thrombocytopenia). This can increase the risk of infections, bleeding, and shortness of breath.
• Nausea and Vomiting: These are common side effects of chemotherapy, though they can often be controlled with anti-nausea medications.
• Hair Loss: Chemotherapy can cause temporary hair loss, which typically regrows after treatment ends.
• Peripheral Neuropathy: Nerve damage that can cause tingling, numbness or pain, most often in the hands and feet. This is a side effect of some chemotherapy drugs.

Your Journey Forward: A Partnership in Care

A leukemia diagnosis can be overwhelming, but remember that many forms of the disease are highly treatable, and with ongoing research, new and more effective therapies are continually becoming available. This overview is just the beginning of your journey.

The most important step you can take is to partner with your healthcare team. Ask questions, share your concerns, and be open about any side effects you experience. This will help your oncologist make the best decisions for your care, ensuring you have the highest quality of life throughout your treatment. What questions do you have after reading this information?

Editor’s Note: This guide is designed to be a starting point. Your personal experience will be unique. By using this information as a foundation for your discussions, you can partner with your oncologist to make the best decisions for your health.

References

1. “How Leukemia Treatment Has Evolved in Recent Years,” by Alex Biese. CURE; Sept. 3, 2025. https://www.curetoday.com/view/how-leukemia-treatment-has-evolved-in-recent-years

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