Evolving patterns and clinical outcome of genetic studies performed at diagnosis in acute myeloid leukemia patients: Real life data from the PETHEMA Registry

Background There are no studies assessing the evolution and patterns of genetic studies performed at diagnosis in acute myeloid leukemia (AML) patients. Such studies could help to identify potential gaps in our present diagnostic practices, especially in the context of increasingly complex procedures and classifications. Methods The REALMOL study (NCT05541224) evaluated the evolution, patterns, and clinical impact of performing main genetic and molecular studies performed at diagnosis in 7285 adult AML patients included in the PETHEMA AML registry (NCT02607059) between 2000 and 2021. Results Screening rates increased for all tests across different time periods (2000–2007, 2008–2016, and 2017–2021) and was the most influential factor for NPM1, FLT3‐ITD, and next‐generation sequencing (NGS) determinations: NPM1 testing increased from 28.9% to 72.8% and 95.2% (p