Knowledge is power: Why genetic testing is essential for patients with acute myeloid leukemia


Posted: September 25, 2020 | Word Count: 996

Roughly 1.8 million people will be diagnosed with cancer in the United States in 2020, according to the National Cancer Institute.[1] Acute myeloid leukemia (AML)—the most common type of acute leukemia—is an aggressive blood cancer characterized by the rapid growth of cells that accumulate in the bone marrow.[2],[3],[4]

AML can occur at any age but is more common among older patients.[5] Some patients may experience a relapse during their journey or their disease may not improve after previous treatment, which is known as refractory disease.[6]

Genetic testing can inform treatment decisions

Genes provide the instructions for everything that happens in the human body, acting like codes that result in unique characteristics like eye color and hair color.[5],[7] Sometimes, changes known as mutations can happen, instructing the body to do harmful things—like develop cancers such as AML.[8],[9]

AML is caused by mutations in leukemia cells.[9] The most common type of mutation in AML occurs in the FLT3 gene, and affects approximately 30% of newly diagnosed patients. FLT3 mutations are associated with a higher relapse rate, faster progression and shorter overall survival.[10],[11]

Progress has been made in understanding the underlying molecular genetics of AML, but many patients continue to be managed with treatment approaches that are not targeted to their specific AML subtype.

Dr. Eunice Wang, Chief of Leukemia at Roswell Park Comprehensive Cancer Center, recognizes a shift in how physicians are approaching the treatment of AML, but more awareness around genetic mutation testing is needed in order to better inform treatment options.

“When I first started practicing as an oncologist, chemotherapy was the only option for patients with AML,” Dr. Wang said. “Today, the field is transforming, with an explosion of new therapies and potential treatment choices for patients with AML. It is critical patients undergo genetic testing for mutations in order to determine the most effective personalized treatment plan.”

What happens when patients relapse or are refractory to treatment (R/R)?

It is recommended patients with AML receive testing for genetic mutations when first diagnosed. However, it's important to understand that genetic mutations can change over the course of a patient’s AML journey. For example, patients could test negative for a FLT3 mutation at diagnosis, and then test positive at relapse.[6],[11],[12],[13]

In AML, identifying updated mutation status through retesting at relapse can help inform care decisions and is valuable to healthcare teams when determining the appropriate treatment options for patients.[6]

Learn more and ask questions

The new Be R/Ready website, sponsored by Astellas, strives to be a resource for people to learn about relapsed or refractory AML, the importance of genetic testing, and in particular, the role of FLT3 mutations.

The goal of Be R/Ready is to empower, provide increased awareness, and stress the essential need for communication between patients, caregivers and their health care team. On the website, a discussion guide is available for patients with foundational questions to help start the conversation, such as:

  • What tests were done to diagnose my AML?
  • Have I been tested for mutations like FLT3? How will my results impact treatment?
  • If I have already been tested, do I need to be retested?
  • How does my medical history affect my treatment options?
  • What are my treatment options if my AML comes back or my treatment is not working?

Visit BeAMLready.com for more information and to access the full discussion guide that can be used for notes and information gathering at your next doctor’s appointment.

Sponsored by Astellas


[1] National Cancer Institute. Table 1.1: estimated new cancer cases and deaths for 2020: all races, by sex. https://seer.cancer.gov/csr/1975_2017/results_single/sect_01_table.01.pdf. Accessed 08-26-2020.

[2] National Cancer Institute. Adult acute myeloid leukemia treatment (PDQ®) - patient version (03-06-2020). https://www.cancer.gov/types/leukemia/patient/adult-aml-treatment-pdq. Accessed 06-22-2020.

[3] National Cancer Institute. NCI dictionary of cancer terms: AML. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/aml. Accessed 08-06-2020.

[4] American Cancer Society. What is acute myeloid leukemia (AML)? (08-21-2018). https://www.cancer.org/cancer/acute-myeloid-leukemia/about/what-is-aml.html. Accessed 07-21-2020.

[5] American Cancer Society. Acute myeloid leukemia causes, risk factors, and prevention (08-21-2018). https://www.cancer.org/content/dam/CRC/PDF/Public/8675.00.pdf. Accessed 09-02-2020.

[6] National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology (NCCN guidelines): acute myeloid leukemia version 3.2020 (12-23-2019). https://www.nccn.org/professionals/physician_gls/pdf/aml.pdf. Accessed 01-29-2020.

[7] American Cancer Society. Acute myeloid leukemia (AML) subtypes and prognostic factors (08-21-2018) https://www.cancer.org/cancer/acute-myeloid-leukemia/detection-diagnosis-staging/how-classified.html. Accessed 06-05-2020.

[8] National Cancer Institute. NCI dictionary of cancer terms: mutation. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/mutation. Accessed 06-10-2020.

[9] Patel JP, Gönen M, Figueroa ME, et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med 2012;366(12):1079-89.

[10] Perl AE, Altman JK, Cortes J, et al. Selective inhibition of FLT3 by gilteritinib in relapsed or refractory acute myeloid leukaemia: a multicentre, first-in-human, open-label, phase 1-2 study. Lancet Oncol 2017;18(8):1061-75. Errata in: Lancet Oncol 2017;18(12):e711.; Lancet Oncol 2018;19(7):e335; Lancet Oncol 2019;20(6):e293.

[11] Nazha A, Cortes J, Faderl S, et al. Activating internal tandem duplication mutations of the fms-like tyrosine kinase-3 (FLT3-ITD) at complete response and relapse in patients with acute myeloid leukemia. Haematologica 2012;97(8):1242-5.

[12] McCormick SR, McCormick MJ, Grutkoski PS, et al. FLT3 mutations at diagnosis and relapse in acute myeloid leukemia: cytogenetic and pathologic correlations, including cuplike blast morphology. Arch Pathol Lab Med 2010;134(8):1143-51.

[13] Alvarado Y, Kantarjian HM, Luthra R, et al. Treatment with FLT3 inhibitor in patients with FLT3-mutated acute myeloid leukemia is associated with development of secondary FLT3–tyrosine kinase domain mutations. Cancer 2014;120(14):2142-9.

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