NGS Continues to Be an Important Line of Defense In the Treatment of AML


Acute Myeloid Leukemia (AML), a cancer of the blood and bone marrow, is the most common kind of acute leukemia in adults. Without quick treatment, AML tends to worsen rapidly.

Today, next generation sequencing is being used to help identify which mutations are present in a patient’s specific form of AML, helping identify the therapies that may work best. With regular testing, it’s possible to see if a mutation is present that may rebuke a treatment option or if the mutations that could resist are not present, allowing treatments to move forward more effectively.

Early Next Generation Sequencing

Prior to 2008, NGS was used minimally, and there were only two functional genetic groups identified for leukemic pathogenesis. These included Class I and II genes like KIT and CEBPA. With the introduction of powerful NGS sequencing platforms, somatic mutations in AML were able to be identified and researched more closely.

By 2013, the Cancer Genome Atlas project had discovered and confirmed nine families involved in the development of AML. In the AML genome, an average of 14 mutations could be identified, ranging from five to 23 mutations in each case.

By 2016, 11 subgroups of genome alterations were identified using NGS. With this information, as well as information from past work, gene mutations were moved into the subclassification and risk-stratification of AML. Testing continues to play an important role in diagnosing AML cases, providing patients with prognoses, and determining the kinds of therapies that may work to help minimize disease.

The Applications for Next Generation Sequencing for Acute Myeloid Leukemia

One of the hallmarks of AML is its propensity to mutate. It is those mutations that can be used to identify patient prognoses, according to Hetty Carraway, MD. Today, next generation sequencing is routinely being used for mutation profiling, which, when used at the time of diagnosis and throughout therapy, can help medical providers understand which mutations may be more sensitive to various therapies.

Sometimes, next generation sequencing is thought of as a one-time test, but it shouldn’t be. When it’s used throughout the therapy process, it’s possible to learn more about which mutations resist commonly used therapies and which may be targeted to reduce or eliminate the disease.

This is an important step to consider for all patients diagnosed with AML, as identifying residual disease and being able to measure it in the body could be helpful in determining future treatment options.

Next Generation Sequencing Can Guide Treatment Options

With NGS mutation profiles, it’s possible for medical providers to have on hand detailed information about the AML case that they’re working with. That information can give them insight on:

  • The number of gene mutations present
  • Variant allele frequency
  • The likelihood of a positive response to targeted therapies

With such important data available with NGS, it makes sense to perform this test not only during diagnosis but also as therapies continue and the patient does or does not respond to treatment.

Routine clinical NGS sequencing has the potential to provide other important data, too, such as the ontogeny of the disease, resistance mutations, and underlying germline predisposition and clonal hematopoiesis.

Improving and Understanding AML

Next generation sequencing is a helpful tool that has helped researchers, pathologists and oncologists dive deeply into the causes of AML as well as its potential treatments. With NGS, it has been possible to design therapies that are more likely to target the disease and help prevent relapse.

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