Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases

The ASXL1 gene is one of the most frequently mutated genes in malignant myeloid diseases. The ASXL1 protein belongs to protein complexes involved in the epigenetic regulation of gene expression. ASXL1 mutations are found in myeloproliferative neoplasms (MPN), myelodysplastic syndromes (MDS), chronic myelomonocytic leukemia (CMML) and acute myeloid leukemia (AML). They are generally associated with signs of aggressiveness and poor clinical outcome. Because of this, a systematic determination of ASXL1 mutational status in myeloid malignancies should help in prognosis assessment.

• Publication year

  2012

• Venue

  Journal of Hematology & Oncology

• Publication date

  2012-03-21

• Fields of study

  Medicine

• Identifiers
  DOI 10.1186/1756-8722-5-12PMID 22436456PMCID 3355025
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• ASXL1 exon 12 mutations are frequent in AML with intermediate risk karyotype and are independently associated with an adverse outcome

  2013cited by this paper
• Acquired mutations in ASXL1 in acute myeloid leukemia: prevalence and prognostic value

  2012cited by this paper
• Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes.

  2012cited by this paper
• Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms

  2012cited by this paper
• ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression.

  2012cited by this paper
• Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms.

  2012cited by this paper
• ASXL1 mutations in primary and secondary myelofibrosis

  2012cited by this paper
• The HARE-HTH and associated domains

  2012influential reference
• The genetic basis of early T-cell precursor acute lymphoblastic leukaemia

  2012cited by this paper
• Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

  2011cited by this paper
• Risk stratification of intermediate-risk acute myeloid leukemia: integrative analysis of a multitude of gene mutation and gene expression markers.

  2011cited by this paper
• ASXL1 Mutations Promote Myeloid Transformation Through Inhibition of PRC2-Mediated Gene Repression

  2011influential reference
• Mutations and deletions of the SUZ12 polycomb gene in myeloproliferative neoplasms

  2011cited by this paper
• De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

  2011cited by this paper
• Clinical effect of point mutations in myelodysplastic syndromes.

  2011influential reference
• ASXL1 mutations identify a high-risk subgroup of older patients with primary cytogenetically normal AML within the ELN Favorable genetic category.

  2011cited by this paper
• Prognostic Impact of EZH2 and ASXL1 Mutation in Myelofibrosis

  2011cited by this paper
• Mouse Genome-Wide Association and Systems Genetics Identify Asxl2 As a Regulator of Bone Mineral Density and Osteoclastogenesis

  2011cited by this paper
• Gene mutation patterns and their prognostic impact in a cohort of 1185 patients with acute myeloid leukemia.

  2011cited by this paper
• Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in >80% of patients with TET2 and EZH2 being of high prognostic relevance

  2011cited by this paper
• Prognostic significance of ASXL1 mutations in patients with myelodysplastic syndromes.

  2011cited by this paper
• DIPSS plus: a refined Dynamic International Prognostic Scoring System for primary myelofibrosis that incorporates prognostic information from karyotype, platelet count, and transfusion status.

  2011cited by this paper
• Silencing chromatin: comparing modes and mechanisms

  2011cited by this paper
• Disruption of the ASXL1 gene is frequent in primary, post-essential thrombocytosis and post-polycythemia vera myelofibrosis, but not essential thrombocytosis or polycythemia vera: analysis of molecular genetics and clinical phenotypes

  2011cited by this paper
• Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A.

  2011cited by this paper
• EZH2 mutational status predicts poor survival in myelofibrosis.

  2011cited by this paper
• ASXL1 exon 12 Mutations Are Frequent in AML with Intermediate Risk Karyotype and Are Independently Associated with An Extremely Poor Outcome

  2011cited by this paper
• Loss-of-function Additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia.

  2010cited by this paper
• Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders

  2010cited by this paper
• RAS Mutations Contribute to Evolution of Chronic Myelomonocytic Leukemia to the Proliferative Variant

  2010cited by this paper
• High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression

  2010cited by this paper
• Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB

  2010influential reference
• Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

  2010cited by this paper
• The most commonly reported variant in ASXL1 (c.1934dupG;p.Gly646TrpfsX12) is not a somatic alteration

  2010cited by this paper
• Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias

  2010influential reference
• Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias.

  2010cited by this paper
• Concomitant analysis of EZH2 and ASXL1 mutations in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative neoplasms

  2010influential reference
• Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia

  2010cited by this paper
• Mutual exclusion of ASXL1 and NPM1 mutations in a series of acute myeloid leukemias

  2010cited by this paper
• Additional Sex Comb-like (ASXL) Proteins 1 and 2 Play Opposite Roles in Adipogenesis via Reciprocal Regulation of Peroxisome Proliferator-activated Receptor γ*

  2010cited by this paper
• Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations.

  2010cited by this paper
• ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia

  2010cited by this paper
• Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations

  2010cited by this paper
• JAK2 phosphorylates histone H3Y41 and excludes HP1α from chromatin

  2009cited by this paper
• Functional Conservation of Asxl2, a Murine Homolog for the Drosophila Enhancer of Trithorax and Polycomb Group Gene Asx

  2009cited by this paper
• Faculty Opinions recommendation of JAK2 phosphorylates histone H3Y41 and excludes HP1alpha from chromatin.

  2009cited by this paper
• Mutations of ASXL1 gene in myeloproliferative neoplasms

  2009cited by this paper
• ASXL1 Represses Retinoic Acid Receptor-mediated Transcription through Associating with HP1 and LSD1*

  2009cited by this paper
• Heterogeneous breakpoints in patients with acute lymphoblastic leukemia and the dic(9;20)(p11~13;q11) show recurrent involvement of genes at 20q11.21

  2009cited by this paper
• VEGFR1-activity-independent metastasis formation

  2009cited by this paper
• Mutations of polycomb‐associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia

  2009cited by this paper
• Alteration of enhancer of polycomb 1 at 10p11.2 is one of the genetic events leading to development of adult T‐cell leukemia/lymphoma

  2009cited by this paper
• Additional Sex Comb-like 1 (ASXL1), in Cooperation with SRC-1, Acts as a Ligand-dependent Coactivator for Retinoic Acid Receptor*

  2006cited by this paper
• Identification and characterization of human CXXC10 gene in silico.

  2004cited by this paper
• Rearrangement of the MOZ gene in pediatric therapy‐related myelodysplastic syndrome with a novel chromosomal translocation t(2;8)(p23;p11)

  2003cited by this paper
• Clinical Trials and Observations

  year unknowncited by this paper

• Reassessing Benign ASXL1 Variants in Bohring-Opitz Syndrome: The Role of Population Databases in Variant Reinterpretation.

  2026cites this paper
• Molecular insights and treatment innovations: Advancing outcomes in acute myeloid leukemia with myelodysplasia‑related changes (Review).

  2025cites this paper
• ASXL1 MUTATIONAL ANALYSIS IN MYELOFIBROSIS PATIENTS IN KHYBER PAKHTUNKHWA

  2025cites this paper
• Better Response and Prognosis of Venetoclax Plus Hypomethylating Agents Over Intensive Chemotherapy in Young Adults With Newly Diagnosed ASXL1 ‐Mutated Acute Myeloid Leukemia

  2025cites this paper
• Efficacy analysis of rhTPO and construction of recovery prediction model in acute myeloid leukemia patients with post-chemotherapy thrombocytopenia

  2025cites this paper
• Genetic profile of ASXL1 gene in risk assessment in acute myeloid leukemia

  2025cites this paper
• Humanized mouse models in MDS

  2025cites this paper
• Contemporary CMML Risk Stratification and Management

  2025cites this paper
• Mutational Spectrum and Clinical Outcomes of Myelodysplastic/Myeloproliferative Neoplasms: A Single-Institution Study in Korea with Emphasis on U2AF1

  2025cites this paper
• Myeloablative and Reduced Intensity Allogeneic Transplant in Patients with Myeloproliferative Neoplasms.

  2025cites this paper
• Recent advances in the methods and clinical applications of next-generation sequencing in genomic profiling and precision cancer therapy

  2025cites this paper
• Oncogenic activation of EVC/EVC2 defines a therapeutically targetable subset of acute myeloid leukemia

  2025cites this paper
• A mutant ASXL1-BAP1-EHMT complex contributes to heterochromatin dysfunction in clonal hematopoiesis and chronic monomyelocytic leukemia

  2025cites this paper
• Uncovering genomic diversity and signatures of selection in red Angus × Chinese red steppe crossbred cattle population

  2025cites this paper
• A mutant ASXL1-EHMT complex contributes to heterochromatin dysfunction in clonal hematopoiesis and chronic monomyelocytic leukemia

  2025influential citation
• Generation and Characterization of Induced Pluripotent Stem Cells Carrying An ASXL1 Mutation

  2024cites this paper
• Clinical validation of the Ion Torrent Oncomine Myeloid Assay GX v2 on the Genexus Integrated Sequencer as a stand-alone assay for single-nucleotide variants, insertions/deletions, and fusion genes: Challenges, performance, and perspectives.

  2024cites this paper
• Diagnosing recipient- vs. donor-derived posttransplant myelodysplastic neoplasm via targeted single-cell mutational profiling.

  2024cites this paper
• The role of long noncoding RNAs in the diagnosis, prognosis and therapeutic biomarkers of acute myeloid leukemia

  2024cites this paper
• A comparative analysis of the clinical and genetic profiles of blast phase BCR::ABL1‐negative myeloproliferative neoplasm and acute myeloid leukemia, myelodysplasia‐related

  2024cites this paper
• Comprehensive genomic characterization of hematologic malignancies at a pediatric tertiary care center

  2024cites this paper
• ASXL1 truncating variants in BOS and myeloid leukemia drive shared disruption of Wnt-signaling pathways but have differential isoform usage of RUNX3

  2024cites this paper
• Study of mutational profile of patients with Ph-negative myeloproliferative neoplasms by NGS method

  2024cites this paper
• Mutation Analysis of ASXL1 in Normal Karyotype Myelodysplastic Syndromes: Experience From Pakistan

  2024cites this paper
• ASXL1 inactivation and reduced H3K27me3 across central nervous system tumors

  2024cites this paper
• Distinct clinical profiles and patient outcomes in aCML and CNL

  2024cites this paper
• The role of ASXL1 mutations and ASXL1 CircRNAs in cancer

  2024cites this paper
• Research progress on gene mutations and drug resistance in leukemia.

  2024cites this paper
• Clonal hematopoiesis in LGI1‐antibody encephalitis

  2024cites this paper
• Beyond BCR::ABL1-The Role of Genomic Analyses in the Management of CML.

  2024cites this paper
• Epigenetic regulation by ASXL1 in myeloid malignancies

  2023cites this paper
• Co-mutation of ASXL1 and SF3B1 Predicts Poorer Overall Survival Than Isolated ASXL1 or SF3B1 Mutations

  2023cites this paper
• Nuclear localization of TET2 requires β-catenin activation and correlates with favourable prognosis in colorectal cancer

  2023cites this paper
• Some results of a pilot study of mutations in ASXL1 and DNMT3A genes in myelodysplastic syndrome

  2023cites this paper
• Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation

  2023cites this paper
• Prognosis and risk factors for ASXL1 mutations in patients with newly diagnosed acute myeloid leukemia and myelodysplastic syndrome

  2023cites this paper
• The Contribution of the Zebrafish Model to the Understanding of Polycomb Repression in Vertebrates

  2023cites this paper
• Therapeutic targeting of leukemia stem cells in acute myeloid leukemia

  2023influential citation
• Comparing malignant monocytosis across the updated WHO and ICC classifications of 2022

  2023cites this paper
• ASXL1 MUTATION ANALYSIS IN CHRONIC MYELOID LEUKAEMIA PATIENTS

  2023cites this paper
• A case of VEXAS syndrome presenting with unusual bone marrow granulomas: a diagnostic dilemma

  2023cites this paper
• Targeting lysine demethylase 6B ameliorates ASXL1 truncation–mediated myeloid malignancies in preclinical models

  2023cites this paper
• Identification of common factors among fibrosarcoma, rhabdomyosarcoma, and osteosarcoma by network analysis

  2023cites this paper
• Clinical characteristics and prognosis analysis of patients with de novo ASXL1 ‐mutated AML treated with the C‐HUNAN‐AML‐15 protocol: A multicenter study by the South China Pediatric AML Collaborative Group

  2023cites this paper
• Clonal hematopoiesis and acute myeloid leukemia

  2023cites this paper
• Myelodysplastic syndrome: epidemiology, diagnostics and epigenetic disorders

  2022cites this paper
• Prognostic value of ASXL1 mutations in acute myeloid leukemia: A meta-analysis.

  2022cites this paper
• Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome

  2022cites this paper
• Genomic Aging, Clonal Hematopoiesis, and Cardiovascular Disease

  2022cites this paper
• Role of Biomarkers in the Management of Acute Myeloid Leukemia

  2022cites this paper
• Asxl1 deletion disrupts MYC and RNA polymerase II function in granulocyte progenitors

  2022cites this paper
• Multi-omics on truncating ASXL1 mutations in Bohring Opitz syndrome identify dysregulation of canonical and non-canonical Wnt signaling

  2022cites this paper
• 伴ASXL1基因突变初诊急性髓系白血病患者的临床特征及生存分析

  2022cites this paper
• ASXL1 mutations predict inferior molecular response to nilotinib treatment in chronic myeloid leukemia

  2022cites this paper
• Clonal hematopoiesis: Mutation-specific adaptation to environmental change.

  2022cites this paper
• ASXL1/2 mutations and myeloid malignancies

  2022cites this paper
• Role of ASXL1 in Hematopoiesis and Myeloid Diseases.

  2022cites this paper
• The characteristics and clinical prognosis analysis of ASXL1 mutations in Chinese adult patients with primary cytogenetically normal acute myeloid leukemia by next-generation sequencing

  2022cites this paper
• The prognostic value of the interaction between ASXL1 and TET2 gene mutations in patients with chronic myelomonocytic leukemia: a meta-analysis

  2022cites this paper
• Genomic landscape of myelodysplastic/myeloproliferative neoplasm can predict response to hypomethylating agent therapy

  2022cites this paper
• Recurrent mutations in the epigenetic regulator Additional Sex-Combs Like 1 ( ASXL 1 ) are associated with universally poor prognosis in myeloid malignancy

  2022cites this paper
• CARM1-mediated methylation of ASXL2 impairs tumor-suppressive function of MLL3/COMPASS

  2022cites this paper
• Pan-cancer prognostic genetic mutations and clinicopathological factors associated with survival outcomes: a systematic review

  2022cites this paper
• Genomic characteristics and prognostic significance of co‐mutated ASXL1/SRSF2 acute myeloid leukemia

  2021cites this paper
• Epigenetic modifiers in normal and aberrent erythropoeisis.

  2021cites this paper
• Loss of H3K27 methylation identifies poor outcomes in adult-onset acute leukemia

  2021cites this paper
• A cohesive look at leukemogenesis: The cohesin complex and other driving mutations in AML

  2021cites this paper
• Recent Advances in Molecular Diagnostics and Targeted Therapy of Myeloproliferative Neoplasms

  2021cites this paper
• Prognostic value of ASXL1 mutations in patients with primary myelofibrosis and its relationship with clinical features: a meta-analysis

  2021cites this paper
• A concise review on the molecular genetics of acute myeloid leukemia.

  2021cites this paper
• Genetics of Myeloproliferative Neoplasms.

  2021cites this paper
• Asxl1 C-terminal mutation perturbs neutrophil differentiation in zebrafish

  2021cites this paper
• A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review

  2021cites this paper
• Clinical implication and prognostic significance of FLT3-ITD and ASXL1 mutations in Egyptian AML patients: A single-center study

  2021cites this paper
• Diagnostic Challenge and Clinical Dilemma: The Long Reach of Clonal Hematopoiesis.

  2021cites this paper
• Molecular profiling of pediatric and adolescent ependymomas: identification of genetic variants using a next-generation sequencing panel

  2021cites this paper
• Reducing hyperactivated BAP1 attenuates mutant ASXL1-driven myeloid malignancies in human haematopoietic cells.

  2021cites this paper
• Cytogenetically Normal Acute Myeloid Leukaemia at a single centre in South Africa

  2021cites this paper
• Oncogenic truncations of ASXL1 enhance a motif for BRD4 ET-domain binding

  2021cites this paper
• The Impact of Epigenetic Modifications in Myeloid Malignancies

  2021cites this paper
• Gene Expression Analysis of Pediatric Acute Myeloid Leukemia Identified a Hyperactive ASXL1/BAP1 Axis Linked with Poor Prognosis and over Expressed Epigenetic Modifiers

  2021cites this paper
• Genetic Aspects of Myelodysplastic/Myeloproliferative Neoplasms

  2021cites this paper
• Therapeutic Opportunities of Targeting Canonical and Noncanonical PcG/TrxG Functions in Acute Myeloid Leukemia.

  2021cites this paper
• Excellent Prognosis of Low-Risk Myelodysplastic Syndromes (MDS) Without Detectable Myeloid-Related Mutations.

  2021cites this paper
• Molecular Pathogenesis of BCR-ABL-Negative Atypical Chronic Myeloid Leukemia

  2021cites this paper
• Supplemental Association of Clonal Hematopoiesis With Incident Heart Failure.

  2021cites this paper
• Molecular Profile of BCR-ABL1 Negative Myeloproliferative Neoplasms and Its Impact on Prognosis and Management

  2021cites this paper
• Common clonal origin of chronic myelomonocytic leukemia and B-cell acute lymphoblastic leukemia in a patient with a germline CHEK2 variant

  2021cites this paper
• Risk factors affect accurate prognosis in ASXL1-mutated acute myeloid leukemia

  2021cites this paper
• Molecular and genomic landscapes in secondary & therapy related acute myeloid leukemia.

  2021cites this paper
• Comparison of SF3B1/DNMT3A Comutations With DNMT3A or SF3B1 Mutation Alone in Myelodysplastic Syndrome and Clonal Cytopenia of Undetermined Significance.

  2020cites this paper
• Moving towards a uniform risk stratification system in CMML - How far are we?

  2020cites this paper
• Landscape of Tumor Suppressor Mutations in Acute Myeloid Leukemia

  2020cites this paper
• Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos

  2020influential citation
• Genetics of age-related clonal hematopoiesis and atherosclerotic cardiovascular disease.

  2020cites this paper
• Clinical characteristics and prognostic study of adult acute myeloid leukemia patients with ASXL1 mutations

  2020cites this paper
• Genetic complexity of chronic myelomonocytic leukemia

  2020cites this paper
• The Role of ASXL1/2 and Their Associated Proteins in Malignant Hematopoiesis

  2020cites this paper
• ASXL1 mutation as a surrogate marker in acute myeloid leukemia with myelodysplasia‐related changes and normal karyotype

  2020cites this paper
• Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project

  2020cites this paper