Abstract

• U2AF1 mutant CH is infrequent in the spectrum of genes mutated in age-related CH (<10%) and commonly presents as clonal cytopenias of undetermined significance (CCUS). • U2AF1 CH is more common in males (67%) and frequently co-occurs with truncating BCOR mutations (29%; with 86% occurring in males). • U2AF1 mutant CH is associated with a high rate (25%) and short latency (17.5 months) for progression to myeloid neoplasms. • While U2AF1 mutant CH usually occurs in the elderly (median age 71 years), the context specific occurrence in younger patients with telomere biology disorders needs further assessment.

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