Experimental Biomedical Research
Beyond conventional genetics: impact of next-generation sequencing integration in acute myeloid leukemia
By Hasan Göze, Tuna Eren Esen, Isa Yalcinkaya and 2 others.
Abstract
Aim
To determine whether next-generation sequencing (NGS) improves 2022 European LeukemiaNet (ELN) risk stratification by identifying myelodysplasia-related (MDS-related) mutations in acute myeloid leukemia (AML).
Methods
We analyzed 111 consecutive adults with newly diagnosed non-promyelocytic acute myeloid leukemia (AML) who underwent diagnostic NGS with a myeloid gene panel. For each patient, an ELN 2022 risk category was assigned using four diagnostic modalities—metaphase karyotyping, fluorescence in situ hybridization (FISH), targeted molecular (PCR) testing, and NGS. A conventional category was defined as the most adverse assignment obtained from karyotyping, FISH, and PCR, whereas the NGS-inclusive category was defined as the most adverse assignment obtained when NGS was added to these modalities. The primary outcome was within-patient reclassification attributable to the incorporation of NGS. Reporting followed the STROBE guidelines.