• Wien. Klin. Wochenschr. · Nov 2024

    Acute myeloid leukemia in the next-generation sequencing era : Real-world data from an Austrian tertiary cancer care center.

    • Sonja Wurm, Michael Waltersdorfer, Simone Loindl, Jennifer M Moritz, Sereina A Herzog, Gerhard Bachmaier, Andrea Berghold, Karl Kashofer, Christine Beham-Schmid, Gerald Hoefler, Hildegard T Greinix, Albert Wölfler, Andreas Reinisch, Heinz Sill, and Armin Zebisch.
    • Clinical Division of Hematology, Medical University of Graz, Auenbruggerplatz 38, 8036, Graz, Austria.
    • Wien. Klin. Wochenschr. 2024 Nov 11.

    BackgroundNext-generation sequencing (NGS) has recently entered routine acute myeloid leukemia (AML) diagnostics. It is paramount for AML risk stratification and identification of molecular therapeutic targets. Most NGS feasibility and results data are derived from controlled clinical intervention trials (CCIT). We aimed to validate these data in a real-world setting.Patients, Materials And MethodsThis study retrospectively analyzed 447 AML patients treated at an Austrian tertiary cancer care center. A total of 284 out of the 447 cases were treated between 2013-2023 when NGS was locally available for the clinical routine.ResultsThe NGS was successfully performed from bone marrow biopsies and aspirates, with processing times decreasing from 22 days in 2013/2014 to 10 days in 2022. Molecular therapeutic target(s) were identified by NGS in 107/284 (38%) cases and enabled risk stratification in 10 cases where conventional karyotyping failed. Concerning molecular landscape, TET2 (27%), FLT3 (25%), DNMT3A (23%), and NPM1 (23%) were most frequently mutated. Comparing older and younger patients (cut-off 70 years) showed enrichment in older people for mutations affecting DNA methylation (72% vs. 45%; P < 0.001) and the spliceosome (28% vs. 11%; P = 0.006) and more cellular signaling mutations in younger patients (61% vs. 46%; P = 0.022). Treatment outcomes corroborated a significant survival benefit in the recent NGS era and patients treated with novel/molecularly targeted drugs. Ultimately, biospecimens of these patients are stored within a leukemia biobank, generating a valuable tool for translational science.ConclusionOur study validates data from CCIT and supports their relevance for treatment decisions in a real-world setting. Moreover, they demonstrate the feasibility and benefits of NGS within a routine clinical setting.© 2024. The Author(s).

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