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Research into AML has advanced in recent years, making it clear that AML is not a single disease, but rather a disease that can take one of many forms. The type of AML a patient has can depend on:

  • how developed the abnormal leukemia cells are at diagnosis;
  • the shape (morphology) of the leukemia cells and specific markers (proteins) on their surface;
  • how much they differ from normal, healthy blood cells;
  • the genetic/chromosomal abnormality present; and
  • whether the leukemia has relapsed.1

The type of AML a patient has can impact how well certain treatments work; knowing your AML type can guide personalized treatment decisions.

Genetic changes in AML

Changes to specific genes, known as mutations, are identified in many cases of AML and can result in specific types of AML. These mutations can help abnormal cells grow in an out-of-control manner. Some mutations are associated with better outcomes, while others are thought to contribute to more aggressive forms of AML and poorer outcomes.

Changes in the following genes are most commonly observed in patients with AML: FLT3, IDH1, IDH2, NPM1, DNMT3A, CEBPA, TET2, and KIT. It is important to know whether one or more of these genes are abnormal in your AML cells, as this can identify the type of AML you have and help to tailor a unique treatment for you.

Ask your doctor about your specific type of AML.

Chromosomal changes in AML

There are several categories of chromosomal changes that can cause specific types of AML. These can affect your outlook and how you respond to treatment. They include

  • chromosomal translocations – when part of a chromosome breaks off and sticks to a different chromosome;
  • chromosomal deletions – when part of a chromosome is lost, possibly leading to the loss of a gene that controls the growth of blood cells;
  • chromosomal inversions – when the chromosome is flipped, resulting in faulty ‘instructions’ within the blood cell, which can lead to abnormalities; and
  • chromosomal additions and duplications – when there is an extra chromosome that can produce an abnormal gene.

Knowing the chromosomal changes that are present in your AML can help leukemia specialists decide the best treatment option for you.

Acute promyelocytic leukemia (APL)

Acute promyelocytic leukemia (APL) is a unique type of AML, which is most common in adults between 20 and 50 years of age.2 APL is characterized by a very specific chromosomal change, whereby sections of chromosomes 15 and 17 switch, forming an abnormal fusion gene called PML/RARα. This abnormal gene can lead to the overproduction of immature, non-functional white blood cells called promyelocytes. These promyelocytes build up in the bone marrow and reduce the number of mature healthy blood cells.


1. Cancer.Net. Leukemia - Acute Myeloid - AML: Subtypes. Accessed Feb 24, 2021.

2. Leukemia & Lymphoma Society. Acute Promyelocytic Leukemia Facts. Accessed Feb 24, 2021.

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