Abstract
Although acute myeloid leukemia (AML) with NPM1mut/FLT3-ITDneg is a low-risk entity, its relapse rate remains high. Out of 333 AML patients, 27 were NPM1mut, and were analyzed in greater detail in order to find associations between clinical and molecular features and cumulative incidence of relapse. Next-generation sequencing (NGS) was performed on diagnosis and remission samples using two capture-based panels. The presence of the FLT3D835 variant at diagnosis and a qPCR value of NPM1mut ≥0.1% after induction chemotherapy were associated with an increased probability of relapse, especially if both conditions are present together. By contrast, patients in which the main clone found at diagnosis harbored NPM1 variant had a lower risk of relapse. Nineteen of the 85 variants found at diagnosis were detected by NGS in remission. AML Subgroup with NPM1mut/FLT3-ITDneg is a heterogeneous entity, which can be further risk-stratified based on molecular biomarkers.
Acknowledgements
The authors thank Ms Pilar Martin for her revision of the paper.
Ethics approval and consent to participate
The ethics committee of the Gregorio Marañón General University Hospital approved the study and all patients signed the informed consent document.
Disclosure statement
Julia Suárez-González, Ismael Buño and Carolina Martínez-Laperche collaborated in the design of the panel LMA-GeneSGKit (Sistemas Genómicos, Spain).
Data availability statement
The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.