Diagnosis of leukemia starts with a complete history and physical examination – a thorough understanding of the patient’s medical history, family history of diseases, past and present medications, and physical parameters. Doctors consider all the risk factors and symptoms. This examination will also look for lymph node, liver and spleen enlargement.

Blood tests follow, with a complete blood count measuring the red blood cell (RBC), white blood cell (WBC) and platelet counts. Examining blood smears under a microscope may reveal abnormal cells.

Bone marrow biopsies are conducted on a bone marrow sample obtained by bone marrow aspiration (removing a sample of bone marrow from the hip bone using a thick hollow needle, while the patient is under local anesthesia). The bone marrow examination looks for leukemia cells. Immunophenotyping is used to detect genetic modifications of certain cells. These tests will help in classification of leukemia to determine the best possible treatment options.

Imaging tests include X-rays of the chest to look for enlarged lymph nodes. A lumbar puncture may be used to draw samples of the cerebrospinal fluid to see if leukemia has affected the membranes and spaces around the brain and the spinal cord. To see the organs more clearly, CT and MRI scans are used.

Other tests used in chronic leukemia are FISH (fluorescence in situ hybridization) to examine genes and chromosomes in cells, flow cytometry to count the number and percentage of live cells, their characteristics and the presence of tumor markers, and the IgVH gene mutation test of the bone marrow and blood to see if the IgVH gene has mutated.

Staging leukemia is quite complex and depends on the type; whether it is acute or chronic, T-cell or B-cell, lymphocytic or myelogenous (or myeloid), etc. There are different staging systems too – the FAB system for acute leukemia, and Rai Classification and Binet Staging for chronic leukemia. Staging in leukemia is mostly done based or the number and size of the leukemia cells as against the size and metastases of other cancers, as most chronic leukemia cases are detected late.

Commonly, the factors considered in staging leukemia are:

• Age of the patient (prognosis for younger patients are better than for older patients)
• Medical history of previous disorders related to the blood, and cancers
• Blood cell count – red blood cells, white blood cells, and platelets from a complete blood count (CBC)
• Lymph node, liver and spleen enlargement
• Bone damage
• Mutations and abnormalities in the DNA
• Whether leukemia has spread to the brain and spinal cord

Staging helps determine the prognosis, course of treatment and with predicting the outcome.

Acute leukemia needs to be treated immediately and has two phases of treatment – remission induction treatment and post-remission treatment. Remission induction treatment is used to kill all leukemia cells in the blood and the bone marrow. Post-remission treatment starts after the first phase is complete and the leukemia is in remission. Also called remission continuation therapy, the aim of this phase is to kill any remaining leukemia cells that may cause a relapse.

For chronic leukemia with no symptoms, treatment may be delayed and the disease monitored closely until the symptoms develop. Waiting and watching may delay the side effects of the treatment, but increases the risk of leukemia worsening and getting out of control. Chronic leukemia may not be cured, but the treatment ensures the disease is controlled and the symptoms are managed.

The various treatment options are:

Chemotherapy : Administering drugs orally or intravenously.

Radiation therapy : Using high-energy radiation that focuses on the leukemia cells. This option is mostly used where the leukemia cells have accumulated, like the brain and the spleen.

Targeted therapy : This therapy used specific drugs to target one particular property of the leukemia cell. This causes less damage to healthy cells.

Biological therapy : Living organisms, substances from a living organism or a manufactured version of such substances are used to recognize and kill leukemia cells.

Stem-cell transplant : Chemotherapy or radiation therapy are first used in high doses to kill leukemia cells, followed by transplanting healthy bone marrow cells from the patient or from a donor. These transplanted cells start producing healthy blood cells.

Chimeric antigen receptor (CAR) T-cell treatment : This new form of treatment uses technology to re-engineer the patient’s T-cells to attack leukemia cells. These re-engineered T-cells are introduced into the patient to kill the leukemia cells.