Frequency, Clinical Associations, and Prognostic Significance Of Spliceosome Mutations In Patients With Acute Myeloid Leukemia With Myelodysplasia-Related Changes and Therapy-Related Acute Myeloid Leukemia

Recurrent somatic mutation in RNA splicing machinery genes have been identified in a substantial proportion of patients with myelodysplastic syndrome (MDS). The majority of patients with acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) or with therapy-related acute myeloid leukemia (tAML) are associated with multilineage dysplasia. However, the clinical and biologic characteristics of AML-MRC and tAML with spliceosome mutations have not been elucidated. Thus, the objective of this study was to evaluate the frequency, clinical associations, and prognostic significance of spliceosome mutations in patients with AML-MRC and tAML.