Acute Myeloid Leukemia Diagnosis

Successful leukemia treatment begins with an accurate and precise diagnosis. Many MD Anderson leukemia patients have been misdiagnosed before they come here for care. 

At MD Anderson, suspected leukemia cells are examined by pathologists who focus exclusively on diagnosing leukemia and its many subtypes. This allows MD Anderson to offer patients the most effective treatment for their specific disease. 

Diagnosing leukemia 

A leukemia diagnosis usually starts with a simple blood test, called a complete blood count. A doctor may order this blood test after evaluating the patient’s symptoms. Other times, the test is part of a routine check-up. 

If the test shows the presence of leukemia cells or abnormal levels of red blood cells, white blood cells or platelets, doctors may order the following tests. These tests can offer a definitive leukemia diagnosis and determine the extent of the disease. Tests are also used to monitor the disease’s progress and track how it responds to treatment. 

Biopsy: In a biopsy, suspected cancer cells are retrieved by the care team and studied under a microscope. For leukemia, patients undergo a bone marrow biopsy. This requires taking a sample of bone marrow from the hip with a needle to determine if cancerous cells are present. 

Genetic and molecular testing: If a patient is diagnosed with leukemia, additional tests can determine whether certain chromosomes or gene mutations are present in the diseased cells, or if they have specific proteins or molecules on their surface. This process, sometimes referred to as molecular profiling, can help doctors determine the patient's exact type of leukemia and his or her prognosis. Cancers with different genetic and molecular features can respond differently to treatments, so these tests can also help doctors create a treatment plan with the best chance of success. 

Lumbar puncture: While leukemia starts in the bone marrow, it may spread to the central nervous system (the brain and spinal cord). This is most common in acute lymphocytic leukemia but can occur in any type of leukemia. A lumbar puncture, also known as a spinal tap, can look for this spread by examining the patient’s spinal fluid. During this procedure, health care professionals use a needle to remove cerebrospinal fluid from the spine. The care provider may also administer a small dose of chemotherapy into the spinal fluid to kill leukemia cells that may be present. 

Imaging exams: Doctors may order imaging exams to look for the presence of cancer in different parts of the body. Learn more about imaging exams. 

AML descriptions

(source: National Cancer Institute)

Staging is the process of learning how far a cancer has spread in the patient’s body. There is no standard staging system for AML. Instead, the disease is described by the patient’s treatment and disease status.

Newly diagnosed (untreated) AML

In untreated AML, the disease is newly diagnosed. It has not been treated except to relieve signs and symptoms such as fever, bleeding, or pain, and the following are true:

• The complete blood count is abnormal.
• At least 20% of the cells in the bone marrow are blasts (leukemia cells) or there are certain gene changes.
• There are signs or symptoms of leukemia.

AML in remission

In AML in remission, the disease has been treated and the following are true:

• The complete blood count is normal.
• Less than 5% of the cells in the bone marrow are blasts (leukemia cells).
• There are no signs or symptoms of leukemia in the brain and spinal cord or elsewhere in the body.
  

Refractory or recurrent (relapsed) AML

After treatment with chemotherapy, some patients with newly diagnosed AML will not go into remission. This is called refractory cancer. In contrast, relapsed or recurrent AML is cancer that has recurred (come back) after remission. The AML may come back in the blood and bone marrow or also as leukemia deposits in other tissues (“extramedullary disease,” i.e. leukemia outside the bone marrow).

Some cases of leukemia can be passed down from one generation to the next. Genetic counseling may be right for you. Learn more about the risk to you and your family on our genetic testing page.