Genetic biomarkers identify a subgroup of high-risk patients within low-risk -mutated acute myeloid leukemia.

Although acute myeloid leukemia (AML) with -ITD is a low-risk entity, its relapse rate remains high. Out of 333 AML patients, 27 were , 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 variant at diagnosis and a qPCR value of ≥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 variant had a lower risk of relapse. Nineteen of the 85 variants found at diagnosis were detected by NGS in remission. AML Subgroup with /-ITD is a heterogeneous entity, which can be further risk-stratified based on molecular biomarkers.