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Opinion|Videos|February 5, 2025

Genetic Testing and Molecular Profiling in AML

Panelists discuss the importance of genetic testing, particularly for KMT2A and NPM1 mutations, in identifying patients who would benefit from revumenib, the role of molecular profiling in identifying high-risk acute monocytic leukemia (AML) patients, approaches to KMT2A testing, and when to recommend RNA over DNA testing, along with guidance for institutions lacking standardized diagnostic testing protocols.

Video content above is prompted by the following:

  1. Dr. LeBlanc to ask Dr. Goldberg: Highlight the importance of genetic testing, specifically KMT2A and NPM1, in identifying patients who would benefit from revumenib.
  2. Dr. LeBlanc to ask Dr. Blachly: Briefly comment on the role of molecular profiling in identifying high-risk patients with AML.
    1. Dr. LeBlanc to ask Dr. 4: How do you approach KMT2A testing and when would you recommend RNA over DNA testing? And why?
      1. What guidance would you offer to institutions that do not yet have standardized diagnostic testing protocols?

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