The following is a summary of “Comparison of disease and risk classifications of AML before and after incorporation of NGS analysis of bone marrow samples,” published in the September 2024 issue of Hematology by Sugiura et al.
Mutation profiling by next-generation sequencing (NGS) has advanced the understanding of acute myeloid leukemia (AML) molecular pathogenesis. NGS has been incorporated into the International Consensus Classification (ICC) for disease classification and the European LeukemiaNet (ELN) 2022 (ELN2022) for risk classification.
Researchers conducted a retrospective study to compare disease subtypes between the 4th edition of the WHO classification (WHO-4) and the ICC and further compare disease risk classifications using the ELN2017 and the ELN2022.
They used targeted sequencing of bone marrow samples from 91 patients with AML.
The results showed that entities under AML with recurrent genetic abnormalities were well-established, with almost no change from the WHO-4 to the ICC; 16.7% of AML cases not otherwise specified in the WHO-4 were reclassified as AML with mutated TP53. Another 36.7% were reclassified as AML with myelodysplasia-related gene mutations or cytogenetic abnormalities, according to the ICC. The ELN2017 and ELN2022 showed no difference in concordance indexes in multivariate Cox regression analysis for PFS and OS.
They concluded that the superiority of the ELN2022 over the ELN2017 could not be, and further investigation, including multicenter prospective studies, is needed.
Souce: link.springer.com/article/10.1007/s12185-024-03841-w
