Diagnosing AML, AML-MRC, and tAML

*Please note: This slide show represents a visual interpretation and is not intended to provide, nor substitute as, medical and/or clinical advice.

How are de novo AML, AML-MRC, and tAML diagnosed? Medical History

How are de novo AML, AML-MRC, and tAML diagnosed?

Your hematologist or oncologist will ask you about your health and medical history. Common questions include:

• Do you have symptoms? What are they? When did they start?
• What other health problems do you have, or have you had in the past?
• What medications do you take?
• Do you have a personal or family history of cancer?
• Have you ever smoked? If yes, how much?
• Have you been exposed to secondary smoke?
• Have you had any exposure to certain types of toxic chemicals either in the workplace or elsewhere?

How are AML, AML-MRC, and tAML diagnosed? Physical exam and blood tests

Your doctor will examine you for signs of infection, bleeding, bruising, and other possible signs of a blood disorder, such as enlarged lymph nodes or an enlarged spleen.

Your doctor will likely order several blood tests, including a complete blood count (CBC) with differential and platelet count, and blood chemistry tests. In some patients blood-clotting tests will also be ordered.

How are AML, AML-MRC, and tAML diagnosed?

Abnormal blood tests are often the first sign of AML. In de novo AML the white blood cells may be very high and immature cells called blasts may be present in the blood. The white count may also be low and red blood cells and platelets are almost always low.

In AML-MRC and tAML, white blood cells are usually low; red blood cells and platelets are also usually below normal.

Signs and symptoms of AML, AML-MRC, and tAML

These abnormal counts are linked to appearance of symptoms:

• Patients with low platelets (called thrombocytopenia) commonly have bruising, small red spots in the skin (called petechiae) or may have some active bleeding such as nose bleeds or gum bleeding.
• Patients with low red blood cells (called anemia) commonly experience fatigue and in some cases shortness of breath or light-headedness.
• A lack of healthy white blood cells can increase risk for infections. Abnormal white blood cells can cause fevers and when very high may cause bone pain.

Bone marrow aspiration and biopsy

The bone marrow aspirate is a sample of the liquid portion of the bone marrow. It is used to provide information about the shape of the cells, how the cells are maturing, and the number of blasts (immature cells) in the bone marrow. The aspirate is used for additional testing that may help to determine prognosis and possible targets for treatment, such as chromosome and gene changes.

Processing the bone marrow sample: Bone marrow biopsy

The bone marrow aspirate is a sample of the liquid portion of the bone marrow. It is used to provide information about the shape of the cells, how the cells are maturing, and the number of blasts (immature cells) in the bone marrow. The aspirate is used for additional testing that may help to determine prognosis and possible targets for treatment, such as chromosome and gene changes.

Processing the bone marrow sample: Bone marrow biopsy

The bone marrow biopsy involves taking a small core (the shape and size of a medium pencil lead) of the spongy center of the bone marrow. The bone marrow core provides information about the cellularity of the bone marrow (crowded equals hypercellular, empty equals hypocellular).  It also provides useful information about iron storage, scarring (fibrosis), and the presence of any other abnormal cells.

Other tests for AML, AML-MRC, and tAML

Your doctor will order specialized lab tests, such as genetic tests that look for changes in genes associated with AML.

Your doctor may also want you to have an imaging test, such as a CT scan or an MRI, or may want to carry out a spinal tap.

These tests may be ordered to help identify what subtype of AML you have and whether it has spread outside of the blood and bone marrow.

What do doctors look for to diagnose AML?

In healthy bone marrow, no more than 2 or 3 out of 100 blood-forming cells are immature cells called myeloblasts, or blasts for short.

To diagnose AML, doctors look for at least 20 out of every 100 blood cells (20%) to be blasts, or for the blasts to have a chromosome change that only occurs in AML. We are going to talk about how the diagnosis of each type of AML may vary.

What do doctors look for to diagnose AML-MRC?

To diagnose acute myeloid leukemia with myelodysplasia-related changes (AML-MRC), doctors look for at least 20 out of every 100 blood-forming cells in the marrow (20%) to be blasts, plus at least one of the following:

• A past diagnosis of MDS, another type of cancer, or another blood or bone marrow cancer.
• Genetic testing that shows certain changes in chromosomes that are typical of AML-MRC.
• Or, at least half of the cells in the bone marrow that have certain types of abnormalities under the microscope.

What’s the connection between MDS and AML-MRC?

People with myelodysplastic syndromes (MDS) have low blood cell counts and abnormal cells in the blood and bone marrow.

By definition, patients with MDS have less than 20 blasts out of every 100 (20%) blood-forming cells in the marrow.

Over time, MDS can develop into AML. The risk of MDS changing into AML is higher for people who have a higher-risk type of MDS.

What’s the connection between AML-MRC and CMML?

Chronic myelomonocytic leukemia (CMML) is a type of leukemia that has some features that are similar to MDS, such as abnormal cells in the bone marrow. CMML also has some features that are similar to other types of blood cancers, for example, the bone marrow makes too many of a type of white blood cell called a monocyte. Having CMML increases the risk for developing AML-MRC.

What do doctors look for to diagnose tAML?

To diagnose treatment-related AML (tAML), doctors look for at least 20 out of every 100 (20%)  blood-forming cells in the marrow to be blasts, and for the patient to have been treated with radiation or certain types of chemotherapy for a previous cancer.

AML is not staged like most other cancers

For most types of cancer, the stage of disease is measured by the size of the tumor and by how far the cancer has spread in the body. AML is not staged like most other cancers. This is for a couple of reasons.

• AML does not usually form local tumors, and
• At diagnosis, AML is usually already widespread in the bone marrow, and peripheral blood and may spread to organs such as the spleen or other tissues.

What is the prognosis for a patient with AML?

The outlook or prognosis for each patient with AML depends on several factors:

• The subtype of AML, including the results of chromosome and genetic tests. The lab tests that the doctor ordered will help to identify what subtype of AML you have and which genes are altered.
• The patient’s general health and level of physical fitness. Patients who have severe abnormalities of the heart, liver or kidneys may not be able to tolerate treatment well, whereas patients who are fit will likely tolerate more aggressive treatment.
• The patient’s age. The outlook is often better for younger patients than for older patients, though this can vary from one person to another.

More questions about AML?

If you have been diagnosed with AML, you will need more blood and bone marrow testing during and after treatment to see how your AML cells are responding.

If you have further questions about the diagnosis of AML, talk with your doctor or healthcare team.