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    BIOMARKER:

    ASXL1 mutation

    i
    Other names: ASXL1, ASXL Transcriptional Regulator 1, Additional Sex Combs Like 1, Transcriptional Regulator, Polycomb Group Protein ASXL1, Additional Sex Combs Like Transcriptional Regulator 1, Additional Sex Combs Like 1 (Drosophila), Putative Polycomb Group Protein ASXL1, Additional Sex Combs-Like Protein 1, KIAA0978, BOPS, MDS
    Entrez ID:
    171023
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    5d
    Autoimmune Features in Myelodysplastic Syndromes: Clinical and Molecular Heterogeneity With Integrated IPSS-M Analysis. (PubMed, Clin Lymphoma Myeloma Leuk)
    These findings suggest that MDS with autoimmune features exhibit clinical and molecular heterogeneity, whereas IPSS-M, but not autoimmune status, was independently associated with survival in this cohort.
    Journal
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    ASXL1 (ASXL Transcriptional Regulator 1)
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    ASXL1 mutation
    5d
    Evaluation of Prognostic Factors and Outcomes in Primary versus Secondary Myeloid Sarcoma. (PubMed, Hum Pathol)
    Outcomes appear to be influenced by an interplay of disease context, clonal architecture, and therapeutic strategy rather than individual mutations alone, underscoring the need for integrated molecular profiling and prospective studies to guide management. This study highlights that MS with MR mutations may follow different cellular pathways to evolution.
    Journal • Tumor mutational burden
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    TMB (Tumor Mutational Burden) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NPM1 (Nucleophosmin 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2)
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    TMB-H • NRAS mutation • NPM1 mutation • TMB-L • ASXL1 mutation • TET2 mutation
    6d
    Systemic Mastocytosis in Adults: 2026 Update on Diagnosis, Risk Stratification and Management. (PubMed, Am J Hematol)
    Tyrosine kinase inhibitors (TKI) (midostaurin, avapritinib) have changed the treatment landscape in SM...Cladribine continues to have a role for MC debulking, whereas interferon-α has a diminishing role in the TKI era...Allogeneic stem cell transplant has a role in such patients. Imatinib has a therapeutic role only in the rare patient with an imatinib-sensitive KIT mutation.
    Journal
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    NRAS (Neuroblastoma RAS viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • RUNX1 (RUNX Family Transcription Factor 1) • TNFRSF8 (TNF Receptor Superfamily Member 8) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2) • IL2RA (Interleukin 2 receptor, alpha) • CD2 (CD2 Molecule)
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    NRAS mutation • KIT mutation • ASXL1 mutation • TNFRSF8 expression • SRSF2 mutation
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    imatinib • midostaurin • cladribine • Ayvakit (avapritinib)
    6d
    Impact of U2AF1 Pathogenic Variants on Prognosis of Myelodysplastic Neoplasms With RUNX1 Mutation. (PubMed, Hematol Oncol)
    Mutations in ASXL1, SRSF2, EZH2 and NRAS were significantly more frequent in RUNX1-mutated patients compared with those without RUNX1 mutations (adjusted p < 0.05). RUNX1-mutated patients exhibited poorer overall survival (median OS 18 months vs. 51 month, p < 0.001), while U2AF1 co-mutations were associated with a relatively better prognosis (median OS 34 months vs. 17 months, p = 0.003), indicating a potential modifying effect of U2AF1 on the outcome of RUNX1-mutated patients.
    Journal • Tumor mutational burden
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    TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1)
    |
    NRAS mutation • RUNX1 mutation • ASXL1 mutation • EZH2 mutation • SRSF2 mutation
    7d
    Association Between Clonal Hematopoiesis and Cardiometabolic Disease: A Systematic Review and Meta-Analysis. (PubMed, JACC CardioOncol)
    CH is associated with cardiometabolic outcomes and may exhibit heterogeneity across mutations and clinical phenotypes, supporting its role as a somatic genomic marker of cardiometabolic risk. However, cautious interpretation and further study are required, as CH definitions were heterogeneous. (Association of Clonal Hematopoiesis with Type 2 Diabetes and Cardiovascular Disease: A Systematic Review and Meta Analysis; CRD420251156288).
    Retrospective data • Journal
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    ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2)
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    ASXL1 mutation • TET2 mutation
    9d
    BAP1 loss impairs IFN-γ signaling and enhances NK cell-mediated cytotoxicity in myeloid leukemia. (PubMed, Cancer Immunol Immunother)
    BAP1 knockdown across multiple myeloid leukemia cell lines selectively decreased HLA-E and IFN-γ-R1 expression in ASXL1-mutant backgrounds. These findings suggest that BAP1 may contribute to the regulation of IFN-γ responsiveness and immune evasion in myeloid leukemia.
    Journal • BRCA Biomarker
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    ASXL1 (ASXL Transcriptional Regulator 1) • BAP1 (BRCA1 Associated Protein 1) • IFNG (Interferon, gamma) • HLA-E (Major Histocompatibility Complex, Class I, E)
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    ASXL1 mutation
    17d
    Impact of Somatic Mutations on Treatment Response and Resistance in Chronic Myeloid Leukemia. (PubMed, Int J Lab Hematol)
    In this Indian CML cohort, somatic mutations were prevalent in TKI-resistant disease, linked to advanced phase and clonal complexity, and demonstrated a non-significant trend toward lower early MMR at diagnosis, highlighting the importance of genomic testing in this context.
    Journal
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    ABL1 (ABL proto-oncogene 1) • ASXL1 (ASXL Transcriptional Regulator 1)
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    ASXL1 mutation
    18d
    Mutational Landscape and Clinical Outcomes in AML With Sole Trisomy 8. (PubMed, Hematol Oncol)
    Categorizing patients on the basis of MR gene mutations revealed that the inferior survival of sole +8 patients may be attributed to the high frequency of MR gene mutations in these patients. These findings indicate the importance of genetic mutations, specifically MR genes, in sole +8 AML.
    Clinical data • Journal
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    FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • STAG2 (Stromal Antigen 2)
    |
    ASXL1 mutation • TET2 mutation • SRSF2 mutation
    19d
    Gene-Specific Analysis of Clonal Hematopoiesis Identifies ASXL1 as a Risk Factor for Lung Cancer. (PubMed, bioRxiv)
    In addition, rare germline variant association analysis revealed that germline variation in ASXL1 had the strongest association with lung cancer susceptibility among all solid tumors. Collectively, our findings support a model in which smoking-associated expansion of ASXL1-mutant clones contributes to lung cancer development and suggest that gene-specific CHIP metrics may enhance risk stratification and early detection strategies.
    Journal
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    ASXL1 (ASXL Transcriptional Regulator 1)
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    ASXL1 mutation
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    MSK-IMPACT
    20d
    Prognostic heterogeneity in ASXL1-mutated AML and refinement by an immunophenotype-based score. (PubMed, Front Oncol)
    Collectively, this study demonstrates that ASXL1-mutated AML is not a monolithic high-risk entity. The ImmuScore provides a biologically informed and clinically feasible tool to identify truly high-risk ASXL1-mutated patients, potentially guiding personalized therapeutic strategies.
    Journal
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    ASXL1 (ASXL Transcriptional Regulator 1) • CD123 (Interleukin 3 Receptor Subunit Alpha) • ITGAM (Integrin, alpha M) • IL3RA (Interleukin 3 Receptor Subunit Alpha)
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    ASXL1 mutation
    20d
    Distinct clinical, molecular, and treatment response profiles in primary and secondary myelofibrosis: a single-center retrospective study. (PubMed, Hematology)
    Treatment strategies included supportive care, interferon, hydroxyurea, and ruxolitinib. PMF and SMF demonstrate distinct clinical phenotypes despite sharing bone marrow fibrosis as a common endpoint. The mutational landscape highlights the genetic heterogeneity of MF and underscores the importance of integrating clinical, pathological, and molecular information to improve disease characterization and guide individualized management.
    Retrospective data • Journal
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    JAK2 (Janus kinase 2) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CALR (Calreticulin)
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    ASXL1 mutation
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    Jakafi (ruxolitinib) • hydroxyurea
    22d
    Correlation between Peripheral Blood Immunological Markers and Gene Mutations in Myelodysplastic Syndrome (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)
    Flow cytometry antibody indicators can suggest that MDS patients are prone to gene mutations related to chromatin regulation, transcriptional regulation, poor prognosis and leukemia transformation. The proportions of CD25+ T cells and lymphocytes were both closely related to the T-bet and GATA3 gene mutations.
    Journal
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • BCOR (BCL6 Corepressor) • IL2RA (Interleukin 2 receptor, alpha) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • SETBP1 (SET Binding Protein 1) • GATA2 (GATA Binding Protein 2) • PHF6 (PHD Finger Protein 6) • GATA3 (GATA binding protein 3)
    |
    TP53 mutation • KRAS mutation • NRAS mutation • ASXL1 mutation • EZH2 mutation