The Characteristics and Outcomes of Adult Acute Myeloid Leukemia Patients With KMT2A‐Partial Tandem Duplication

ABSTRACT Introduction KMT2A‐Partial Tandem Duplication (KMT2A‐PTD) is a recurrent gene mutation present in acute myeloid leukemia (AML) and its prognostic significance needs to be clarified. Methods Three hundred and eighty‐seven consecutive adult newly diagnosed AML patients with non‐favorable cytogenetic risk were tested for KMT2A‐PTD by real‐time quantitative PCR. All patients were screened for AML‐related gene fusions and mutations. Results Thirty‐two (8.3%) patients were identified as KMT2A‐PTD (+). KMT2A‐PTD significantly co‐occurred with FLT3‐ITD, RUNX1, and DNMT3A mutation and tended to be related to normal karyotype ( p < 0.0001, p = 0.0001, 0.019, and 0.062). Furthermore, none of the KMT2A‐PTD (+) patients had NPM1 mutation, CEBPA bZIP in‐frame mutation ( p = 0.0005 and 0.0009), and none of them had KMT2A‐rearrangement and other gene fusions ( p = 0.16). As a result, all KMT2A‐PTD (+) patients were categorized into ELN2022‐intermediate or adverse groups ( p < 0.0001). KMT2A‐PTD was not related to patients' age, sex, white blood cell (WBC) counts, hemoglobin (Hb) level, platelet (PLT) counts, percentage of bone marrow blast cells, and FAB subtypes (all p > 0.05). KMT2A‐PTD had no effect on complete remission achievement after 1 and 2 courses of induction therapy, relapse‐free survival, and overall survival in both the entire cohort and within the following five subgroups: FLT3‐ITD (+), RUNX1 mutation, DNMT3A mutation, ELN2022‐intermediate, and ELN2022‐adverse categories, respectively (all p > 0.05). Moreover, KMT2A‐PTD (+) patients also could not be stratified by them (all p > 0.05). Conclusion KMT2A‐PTD harbored its distinct genetic characteristics and had no prognostic impacts in AML.