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April 20, 2021 by MJ Kim 3 min read

Know AML – Raising Awareness of This Rare Cancer

April 21 is AML World Awareness Day, a day to recognize the struggle to tackle one of the most challenging blood cancers and help raise awareness of the advances in the prevention, management, and treatment of acute myeloid leukemia (AML).

What is Acute Myeloid Leukemia (AML)? 

AML is an aggressive cancer that affects the blood and bone marrow. Though a rare type of cancer, AML is the second most common type of leukemia diagnosed in both adults and children [1]. It is characterized by the abnormal production of blood cells in the bone marrow due to genetic abnormalities. These abnormal cells, also called leukemia cells or blasts, can fill up the bone marrow and be released into the bloodstream. They then spread to other areas or organs of the body, including the brain, skin, spleen, and gums, potentially damaging or impeding their normal function.

Facing the Challenges of Treating AML

Thanks to an enormous endeavor by the research community to identify the factors that underlie the onset, progression, and relapse of AML and concurrent advances in biotechnologies, many breakthroughs have been made in developing new therapies and enhancing treatment strategies for AML. However, significant challenges remain.

AML, like many cancers, is an inherently heterogeneous disease. AML blasts might look the same under the microscope, but in fact, within those blast cells is a unique mixture of clones harboring different sets of mutations. This variation has significant implications for how blasts grow and respond to therapy. Although most patients with AML achieve clinical remission with induction chemotherapy, relapse rates remain high. About half of all patients who achieved remission after initial treatment eventually relapse, and only about 25% of adult patients diagnosed survive1

Breaking the Remission-Relapse Cycle with Single-cell Analysis 

To develop cures and break the cycle of remission and relapse, characterizing the underlying clonal architecture of tumors is critical. Fortunately, innovations in single-cell technologies have enabled researchers to peer deeper into AML with unprecedented resolution and sensitivity. With single-cell DNA sequencing, researchers can now fully resolve the clonal architecture of AML, determine the order of mutation acquisition and mutation co-occurrence in the same clones or cell populations, and elucidate how they impact disease progression and treatment resistance. 

For example, a study recently published in Blood Advances by researchers at University of California, San Francisco (UCSF), Johns Hopkins University, and University of Pennsylvania characterizes the previously unmeasurable tumor heterogeneity and clonal evolution of AML through a period of treatment with the FLT3 inhibitor, quizartinib. Previously undetectable by bulk sequencing, single-cell DNA sequencing using the Tapestri Platform revealed that quizartinib drove clonal selection for subclones containing on-target (FLT3) and off-target (non-FLT3) mutations.

 “By understanding how the different cells that make up a cancer work together and evolve to evade treatments, we can unlock the potential to personalize therapies. This gives patients the ability to treat – or even avoid – relapse, redefining what’s possible in precision medicine,” said Cheryl Peretz, MD, UCSF, first author of the study.

The utility of single-cell DNA sequencing for the clinical evaluation of AML minimal residual disease (MRD) has also been studied (Ediriwickrema, A. et al.) Furthermore, single-cell multi-omics analysis can now reveal new genotype-phenotype correlations among individual AML cells, illuminating a fuller picture of the dynamics behind their response and resistance to targeted therapies (Miles et al., Morita et al., Demaree et al.)

 If you would like to read more about how researchers are using single-cell multi-omics to profile AML, understand resistance & relapse and detect MRD, check out this list of publications from our customers. 

Raising Awareness—AML Cannot Be Ignored

More research is required to come up with new effective treatments. Even more support is needed for those who are affected by AML and their families and friends. Since Know AML formalized AML World Awareness Day on April 21 each year, they have been campaigning annually to increase understanding of AML and bring attention to the resources available for the community.

At Mission Bio, our mission is to help researchers and clinicians unlock single-cell biology and eradicate cancer. Over the past year, we have significantly advanced our efforts to support drug development through clinical trials and the translation of research into novel biomarkers, as demonstrated by our ongoing work with NCI cancer centers and leading biopharma companies. An equally important part of our mission is helping to raise awareness of those who are affected by cancer such as AML. Learn how you can get involved today. 



About the Author

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