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ISAL 2025 | The importance of molecular testing in the diagnosis of AML
Maria Teresa Voso, MD, University Tor Vergata, Rome, Italy, comments on the importance of molecular testing in the diagnosis of acute myeloid leukemia (AML). Dr Voso emphasizes that molecular testing is crucial for defining AML subtypes and risk categories, and then guiding treatment decisions. This interview took place at the 19th International Symposium on Acute Leukemias (ISAL XIX) in Munich, Germany.
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Transcript
Molecular testing in AML has received increasing attention in the last years and the 2022 classifications of AML are based in about 75% of cases on genetics, cytogenetics and molecular biology. So these are used to define AML subtypes and to stratify the patients in different risk categories. So diagnosis is very important and it has also been shown that time invested in diagnosis is not a waste of time and indeed waiting up to 10-15 days does not change patient prognosis...
Molecular testing in AML has received increasing attention in the last years and the 2022 classifications of AML are based in about 75% of cases on genetics, cytogenetics and molecular biology. So these are used to define AML subtypes and to stratify the patients in different risk categories. So diagnosis is very important and it has also been shown that time invested in diagnosis is not a waste of time and indeed waiting up to 10-15 days does not change patient prognosis. And this has been shown both in the intensive chemotherapy setting as well as in the non-intensive setting. For instance, IDH1 mutations are a very good example of how the availability of a targeted treatment has also changed our attitude towards this molecular marker. And since we have ivosidenib, IDH1, and also IDH2 mutations, which can be targeted with enasidenib, are included among those tests whose results should be available in a few days after AML diagnosis. So I would say that in general for targeted treatments, we of course need to have the results of our tests in the first week together with cytogenetics. And for other, more prognostic markers, NGS results can be waited for. And these usually in the community, these usually take about one month. And all these turnaround times are also well defined by ELN guidelines and as mentioned before, they help us to identify the targets and also to stratify the patients and give indication also for post-induction treatment.
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