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Acute myeloid leukemia (AML) in children is a cancer of the blood that starts in the bone marrow and spreads to the bloodstream. It is more common in adults, but each year approximately 500 new cases of AML are diagnosed in children in the United States.
A number of tests are performed to evaluate a child suspected of having leukemia. The initial test will be a blood test called a complete blood count (CBC). Your pediatrician or family doctor may order blood tests before referring your child to a specialist. Those tests are often repeated by the oncologist.
Although leukemia cells may be found in the blood, most commonly the diagnosis and classification of leukemia is confirmed by looking at a sample of bone marrow under the microscope. This sample is obtained by performing a bone marrow aspirate. A bone marrow aspirate will provide information regarding the subtype of AML.
An additional test that may be performed along with the bone marrow aspirate is the bone marrow biopsy. A bone marrow biopsy may help in making a diagnosis when there are too few cells in the aspirate sample.
A spinal tap is usually performed to look for leukemia in the central nervous system.
AML can be divided into different subtypes which help your doctor determine both the general prognosis for cure as well as the best type of treatment.
About 75-80% of children with AML will have leukemia blast cells that contain poorly formed chromosomes compared to the rest of their body’s chromosomes. These abnormal chromosomes were first formed when one of the normal myeloid cells divided to make a copy of itself (which they do millions of times a day in each of us). The new copy with the abnormal chromosomes was the very first leukemia cell. This is sometimes called an acquired mutation, meaning the person was not born with it. Many types of abnormalities in the chromosomes can result in a normal myeloid cell becoming a leukemia cell.
There are some types of abnormal chromosome structure that provide information regarding response to therapy. The abnormal chromosomes that cause AML which can more easily be cured are call “low risk” mutations, and those that cause subtypes of AML that are hard to cure are called “high risk” mutations. Risk in this case means both risk for relapse and risk for treatment failure.
Research is continually working to discover all of the mutations that result in AML and other cancers. Some of the research on these mutations has led to the discovery of new ways to treat cancer. Research has determined that these mutations often create either an abnormal protein within our cells that cause them to multiply out of control, or these mutations create copies of normal proteins that are missing the function that stops cells from multiplying.
Consider it similar to a copy machine with either the “start” button stuck on copy, or the “stop” button broken and unable to stop the machine from making millions of copies. You can imagine how that would quickly fill up a room preventing it from be able to be used. The same thing happens in a person’s organs when cancer cells multiply out of control. The new treatment approaches to cancer take advantage of this new knowledge and attempt to either block the abnormal protein from causing uncontrolled copying or replace the missing “stop” protein in order to prevent the copying.
These categories of AML are constantly changing with new subtypes of AML being added or old subtypes being removed from these risk groups as research progresses and new therapies occur. The subtypes of AML not included in the above categories are often called intermediate (or average) risk AML.
Finally, how one responds to treatment AML is also important in determining treatment failure risk and future therapy options for a patient. For AML patients who have remaining (also called residual) leukemia cells visible within the bone marrow after one course of chemotherapy, the chance of long-term treatment failure is high.
Since AML is a cancer of the blood, it is widespread at diagnosis and does not need to be "staged" in the way solid tumors are. There are no X-rays that determine the extent of the disease. However, leukemia cells can also be present in the spinal fluid, which is known as Central Nervous System (CNS) disease. A special test known as a spinal tap or lumbar puncture will be performed to obtain fluid for examination.
Involvement of other organs other than the CNS usually has no bearing on the type of treatment given.
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