AJMP2201 - CME/CMLE - Clinically Significant CUX1 Mutations Are Frequently Subclonal and Common in Myeloid Disorders With a High Number of Co-mutated Genes and Dysplastic Features-Clinically Significant CUX1 Mutations Are Frequently Subclonal and Common in Myeloid Disorders With a High Number of Co-mutated Genes and Dysplastic Features

Clinically Significant CUX1 Mutations Are Frequently Subclonal and Common in Myeloid Disorders With a High Number of Co-mutated Genes and Dysplastic Features

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The research article focuses on clinically significant CUX1 mutations in myeloid disorders, highlighting their association with adverse prognosis features. The study characterizes the mutational landscape and clinical characteristics of myeloid diseases with CUX1 variants. Notably, CUX1 mutations were predominantly seen in older patients and associated with inactivating alterations. The research differentiates tier I/tier II CUX1 variants from variants of unknown significance (VUS) based on classification criteria, emphasizing the importance of accurate variant classification. Tier I/tier II CUX1 variants were more likely subclonal to co-mutations like ASXL1, SF3B1, and TET2, indicating their late clonal evolution within myeloid disorders. These variants were also linked to dysplastic features and a higher mutational burden compared to VUS CUX1 cases. The study underlines the significance of accurate reporting and classification of variants in multigene panels for precise clinical assessment. Additionally, findings suggest possible interactions of CUX1 mutations with chromosomal abnormalities like monosomy 7/deletion 7q and trisomy 8 in leukemogenesis. The research sheds light on potential links between CUX1 variants, dysplastic features in myeloid disorders, and the impact on disease progression and prognosis, providing valuable insights for further investigations and clinical management of myeloid neoplasms.

Keywords

CUX1 mutations

myeloid disorders

adverse prognosis features

mutational landscape

clinical characteristics

variant classification

co-mutations

clonal evolution

dysplastic features

chromosomal abnormalities