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Diagnosis

Several tests that examine cells in the blood and bone marrow are used to detect and diagnose AML. These tests include the following:

Blood test

This test uses a microscope to check the number of blood cells and to look for abnormal blood cells. An abnormal blood test can suggest that a person has leukemia, but further tests are required to determine a diagnosis.

Bone marrow biopsy

A bone marrow sample is taken from inside the bone and examined under a microscope to look for changes in the blood cells. This test can be used to diagnose leukemia and to see how well treatment is working.

Chromosomal studies (cytogenetics)

Our genetic code (DNA) is packaged into structures called chromosomes—tests can identify if there are any changes in a patient’s chromosomes. Abnormalities in chromosomes are observed in around 50–60% of patients who are diagnosed with AML. These changes can disrupt the normal processes in blood stem cells and cause a cell to make too many, too few, or defective proteins. This means the stem cells do not develop into healthy blood cells and can cause uncontrolled growth of leukemia cells.

Normally, our cells have 23 pairs of chromosomes. In AML, part or all of chromosomes 5 or 7 may be missing, there may be an extra chromosome, or a section of a chromosome may have moved. Identifying these chromosomal changes can determine the specific type of AML a patient has, allowing leukemia specialists to decide on the most appropriate treatment.

Immunophenotyping

This test can be used to examine the different kinds of proteins, known as antigens, on the surface of AML cells. This can help determine the specific type of AML a patient has and help leukemia specialists decide on the most appropriate treatment.

Molecular studies

Changes in the structure and function of certain genes (genetic abnormalities) could be the cause of abnormal leukemia cell development. Identifying these, using molecular studies, can determine the specific type of AML a patient has and help leukemia specialists decide on the most appropriate treatment.

References

Cancer.Net. Leukemia - Acute Myeloid - AML - Childhood: Diagnosis. https://www.cancer.net/cancer-types/leukemia-acute-myeloid-aml-childhood/diagnosis. Accessed Feb 18, 2021.

Kumar CC. Genetic abnormalities and challenges in the treatment of acute myeloid leukemia. Genes Cancer. 2011;2(2):95-107. DOI: 10.1177/1947601911408076

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