Somatic Mutations Are Frequently Detected in Chronic Myeloid Leukemia in Chronic Phase and Do Not Affect Response to Tyrosine-Kinase Inhibitors

The development of chronic myeloid leukemia (CML) is driven by a unique genetic aberration, i.e. the BCR-ABL rearrangement. Somatic mutations typical of myeloid neoplasms have been described in patients with CML, mainly associated with blastic phase (BP) or with additional chromosomal aberrations (ACA). Recently, somatic mutations have been identified in a significant proportion of healthy subjects without a hematological phenotype, resulting in a significantly higher risk of developing a hematologic cancer. However, the clinical relevance of these mutations in patients with chronic phase (CP)-CML needs to be clarified. In this study, we performed a comprehensive mutation analysis of genes implicated in myeloid malignancies in a large cohort of CP-CML patients with the aim to estimate their prevalence and the impact on response to TKI and clinical outcomes.