Know AML webinar | What are mutations, and why do they matter in AML?

Know AML hosted a webinar for patients and healthcare professionals (HCPs) on April 23, 2025, titled ‘Mutation testing in AML: What you need to know’. Here, we share a presentation by the chair, Charles Craddock, physician at Queen Elizabeth Hospital Birmingham, UK, discussing mutations and why they matter in AML. 

Craddock opened the session by introducing himself along with fellow speakers, Gail J. Roboz, physician at Weill Cornell Medicine, New York, US, and Ralph Hills, Connecticut, US, who shared his personal journey living with AML. 

Craddock began by outlining the discovery of DNA, the basics of genetics, and how mutations occur (Figure 1).  

He then highlighted how mutation testing in AML helps to: 

• Confirm diagnosis, as certain mutations such as CEBPA, FLT3, IDH1/2, and NPM1 are strongly associated with acute leukemia.⁴

• Categorize mutations and identify AML subtypes, which can help estimate how a patient might respond to treatment and predict the likely course of the disease.⁵

• Guide the use of targeted therapies designed to target a particular mutation, such as FLT3.⁵

• Align with clinical guidelines, as the current recommendations for diagnosis and management of AML now state that the characterization of mutations that commonly occur in AML with a technique called next-generation sequencing is essential.^6,7

• Make decisions around whether a stem cell transplant would be suitable.⁵

• Detect any low levels of disease that may remain after treatment.⁸

This independent educational activity is supported by Thermo Fisher Scientific.
All content is developed independently by the faculty. The funder is allowed no influence on the content.