ArticleBlood cancer journal2023
U2AF1 pathogenic variants in myeloid neoplasms and precursor states: distribution of co-mutations and prognostic heterogeneity.
Article in Blood cancer journal, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 16 citations in OpenAlex.
- Genomic landscape, clinical correlates and prognostic implications of U2AF1 mutation subtypes in myelodysplastic neoplasms.Blood cancer journal · 2026Article
- U2af1Leukemia · 2026Article
- Germline DDX41 Variants: Current Understanding and Future Directions.Current hematologic malignancy reports · 2026Review
- Case report: Dynamic genetic profiles reveal a patient with myelodysplastic neoplasm transforming into acute myeloid leukemia.Discover oncology · 2026Article
- Unlocking the undruggable spliceosome: generative AI and structural dynamics in cancer therapy.Frontiers in cell and developmental biology · 2026Review
- Multipurpose RNA maturation factors dysregulate multiple mRNA processing steps simultaneously and provide new therapeutic opportunities.RNA biology · 2025Review
- Oncogenic DEAD-box ATPase DDX41 establishes transcript ensembles via CLK3-dependent and -independent mechanisms.Nature communications · 2025Article
- Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.Human genomics · 2025Article
- A Relapsed AML Case Featuring MYC and MECOM Rearrangements.Diagnostics (Basel, Switzerland) · 2025Article
- Progress in the Genetics of Myelodysplastic Syndromes with a Latin American Perspective.Genes · 2025Review
- Revealing the role of U2AF1 in splicing regulation and chimeric RNA dynamics.Scientific reports · 2025Article
- Impact of ASXL1 Gene Alterations on Myelodysplastic Syndrome With Isolated 20q Deletion.Cancer medicine · 2025Article
- Rapid Development of Unclassified Myeloid Lineage Acute Leukaemia With Trisomy 6 and U2AF1 Mutation.Journal of cellular and molecular medicine · 2025Article
- Alternative Splicing: A Potential Therapeutic Target in Hematological Malignancies.Hematology reports · 2024Review
- Real world predictors of response and 24-month survival in high-grade TP53-mutated myeloid neoplasms.Blood cancer journal · 2024Article
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16 authors at 4 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
We have previously recognized the genotypic and prognostic heterogeneity of U2AF1 mutations (MT) in myelofibrosis (MF) and myelodysplastic syndromes (MDS). In the current study, we considered 179 U2AF1-mutated patients with clonal cytopenia of undetermined significance (CCUS; n = 22), MDS (n = 108), MDS/acute myeloid leukemia (AML; n = 18) and AML (n = 31). U2AF1 variants included S34 (60%), Q157 (35%), and others (5%): corresponding mutational frequencies were 45%, 55%, and 0% in CCUS; 57%, 39%, and 4% in MDS; 61%, 33%, and 6% in MDS/AML; and 55%, 35% and 10% in AML (P = 0.17, 0.36 and 0.09), respectively. Concurrent mutations included ASXL1 (37%), BCOR (19%), RUNX1 (14%), TET2 (15%), DNMT3A (10%), NRAS/KRAS (8%), TP53 (8%), JAK2 (5.5%) and SETBP1 (5%). The two most frequent U2AF1 MT were S34F (n = 97) and Q157P (n = 46); concurrent MT were more likely to be seen with the latter (91% vs 74%; P = 0.01) and abnormal karyotype with the former (70% vs 62%; P = 0.05). U2AF1 S34F MT clustered with BCOR (P = 0.04) and Q157P MT with ASXL1 (P = 0.01) and TP53 (P = 0.03). The median overall survival (OS) in months was significantly worse in AML (14.2) vs MDS/AML (27.3) vs MDS (33.7; P = 0.001); the latter had similar OS with CCUS (30.0). In morphologically high-risk disease (n = 49), defined by ≥10% blood or bone marrow blasts (i.e., AML or MDS/AML), median OS was 14.2 with Q157P vs 37.1 months in the presence of S34F (P = 0.008); transplant-adjusted multivariable analysis confirmed the detrimental impact of Q157P (P = 0.01) on survival and also identified JAK2 MT as an additional risk factor (P = 0.02). OS was favorably affected by allogeneic hematopoietic stem cell transplantation (HR: 0.16, 95% CI; 0.04-0.61, P = 0.007). The current study defines the prevalence and co-mutational profiles of U2AF1 pathogenic variants in AML, MDS/AML, MDS, and CCUS, and suggests prognostic heterogeneity in patients with ≥10% blasts.
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