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    GENE:

    ANKRD26 (Ankyrin Repeat Domain Containing 26)

    i
    Other names: ANKRD26, Ankyrin Repeat Domain Containing 26, KIAA1074, Ankyrin Repeat Domain-Containing Protein 26, Ankyrin Repeat Domain 26, THC2, Thrombocytopenia 2 (Autosomal Dominant), GNS/ANKRD26/NCKAP1L Fusion, BA145E8.1
    Associations

    News

    Trials
    17d
    LEAH: Cohort Evaluation of Body Fluids Early Detection of Cancer in High-risk Individuals (clinicaltrials.gov)
    P=N/A, N=5909, Not yet recruiting, Gustave Roussy, Cancer Campus, Grand Paris | Initiation date: Jun 2025 --> Feb 2026
    Trial initiation date
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • POLE (DNA Polymerase Epsilon) • RUNX1 (RUNX Family Transcription Factor 1) • BAP1 (BRCA1 Associated Protein 1) • ETV6 (ETS Variant Transcription Factor 6) • MLH1 (MutL homolog 1) • CDK4 (Cyclin-dependent kinase 4) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • CDH1 (Cadherin 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • POLD1 (DNA Polymerase Delta 1) • RAD51C (RAD51 paralog C) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • RAD51D (RAD51 paralog D) • DDX41 (DEAD-Box Helicase 41) • GATA2 (GATA Binding Protein 2) • DICER1 (Dicer 1 Ribonuclease III) • FLCN (Folliculin) • PRSS1 (Serine Protease 1) • SDHD (Succinate Dehydrogenase Complex Subunit D) • TXNIP (Thioredoxin Interacting Protein) • ANKRD26 (Ankyrin Repeat Domain Containing 26) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) • HOXB13 (Homeobox B13)
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    TP53 mutation • PTEN deletion
    18d
    Generation of an induced pluripotent stem cell line CGOi001-A from a patient with hereditary thrombocytopenia and a germline ANKRD26 mutation. (PubMed, Stem Cell Res)
    We generated an induced pluripotent stem cell (iPSC) line (CGOi001-A) from a donor with a germline ANKRD26 mutation and hereditary thrombocytopenia. This line is a valuable resource for studying the ANKRD26-mutant cellular phenotype.
    Preclinical • Journal
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    ANKRD26 (Ankyrin Repeat Domain Containing 26)
    2ms
    Limited availability of variant-specific germ line data creates challenges in the interpretation of myeloid NGS panels. (PubMed, Blood Vessel Thromb Hemost)
    The role of the ANKRD26 VUS reported in this case vis-à-vis the patient's hypercoagulability and CCUS remains unclear. This case raises the question of whether hypercoagulability should be added to the expanding phenotypic spectrum of ANKRD26-related disorders, highlights the challenges of interpreting and managing unexpected germ line findings, and underlines the importance of contributing to genetic variant databases to optimize variant calling and recommendations for patients.
    Journal • Next-generation sequencing
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    ANKRD26 (Ankyrin Repeat Domain Containing 26)
    4ms
    Germline predisposition to acute myeloid leukemia in polish patients. (PubMed, Leuk Lymphoma)
    The median age at AML diagnosis was six years younger in patients carrying germline variants compared to those without. The identification of AML susceptibility genes enhances our understanding of the disease pathogenesis, aids help with recognizing in recognizing individuals at elevated risk, forms the basis for genetic counseling and patient management, assists in selecting suitable donors for allogeneic hematopoietic stem cell transplantation, and supports the development of targeted therapeutic strategies.
    Journal
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    KMT2A (Lysine Methyltransferase 2A) • ANKRD26 (Ankyrin Repeat Domain Containing 26) • ATG2B (Autophagy Related 2B)
    4ms
    Study of CPX-351 (VYXEOS) in Individuals < 22 Years With Secondary Myeloid Neoplasms (clinicaltrials.gov)
    P2, N=25, Active, not recruiting, St. Jude Children's Research Hospital | Recruiting --> Active, not recruiting
    Enrollment closed
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    TP53 (Tumor protein P53) • NF1 (Neurofibromin 1) • RUNX1 (RUNX Family Transcription Factor 1) • ETV6 (ETS Variant Transcription Factor 6) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • CD4 (CD4 Molecule) • MECOM (MDS1 And EVI1 Complex Locus) • GATA2 (GATA Binding Protein 2) • ANKRD26 (Ankyrin Repeat Domain Containing 26)
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    Vyxeos (cytarabine/daunorubicin liposomal formulation)
    5ms
    Next Generation Sequencing (NGS) in Familial Acute Myeloid Leukemia and Myelodisplastic Syndromes (clinicaltrials.gov)
    P=N/A, N=20, Recruiting, Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia | Trial completion date: Dec 2024 --> Dec 2025 | Trial primary completion date: Dec 2024 --> Dec 2025
    Trial completion date • Trial primary completion date
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    TERT (Telomerase Reverse Transcriptase) • RUNX1 (RUNX Family Transcription Factor 1) • ETV6 (ETS Variant Transcription Factor 6) • GATA2 (GATA Binding Protein 2) • ANKRD26 (Ankyrin Repeat Domain Containing 26)
    6ms
    ANKRD26 Gene Mutation and Thrombocytopenia-Is the Risk of Malignancy Dependent on the Mutation Variant? (PubMed, Hematol Rep)
    While ANKRD26-RT is associated with myeloid neoplasms, the c.-118C > G variant may confer a lower oncogenic potential. Variant-specific risk stratification and genetic counseling are crucial for optimizing surveillance and avoiding unnecessary interventions in low-risk individuals.
    Journal
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    ANKRD26 (Ankyrin Repeat Domain Containing 26)
    6ms
    Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia. (PubMed, Int J Mol Sci)
    This study highlights the importance of advanced genetic testing and functional analysis of patients' primary cells in the case of the detection of previously unrecognized structural variants in order to understand pathogenic mechanisms. These investigations provided a definitive diagnosis for the patient and facilitated the development of a tailored clinical management strategy, especially concerning the potential for myeloid transformation.
    Journal
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    ANKRD26 (Ankyrin Repeat Domain Containing 26)
    7ms
    Identification of Genetic Variants Using Next-Generation Sequencing in Pediatric Myelodysplastic Syndrome: From Disease Biology to Clinical Applications. (PubMed, Int J Mol Sci)
    Genetic variants were found in 7/10 patients with normal karyotypes, indicating that submicroscopic alterations can shed light on disease biology. Our results highlight the critical role of a targeted NGS panel in identifying molecular alterations associated with pMDS pathogenesis, thereby enhancing diagnostic precision, prognosis, and aiding in treatment selection.
    Journal • Next-generation sequencing
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    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • RUNX1 (RUNX Family Transcription Factor 1) • ETV6 (ETS Variant Transcription Factor 6) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • JAK3 (Janus Kinase 3) • SETBP1 (SET Binding Protein 1) • DDX41 (DEAD-Box Helicase 41) • GATA2 (GATA Binding Protein 2) • ANKRD26 (Ankyrin Repeat Domain Containing 26)
    7ms
    Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk. (PubMed, Br J Haematol)
    Three cases with ANKRD26-RT demonstrated a multifaceted clinical presentation, including B-ALL Ph+, MDS and breast cancer. The high incidence of HM development highlights the importance of early diagnosis in life.
    Journal
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    RUNX1 (RUNX Family Transcription Factor 1) • ETV6 (ETS Variant Transcription Factor 6) • ANKRD26 (Ankyrin Repeat Domain Containing 26)
    10ms
    ANKRD26-related Thrombocytopenia 2 with a Baseline Increase in Blasts: Implications for Clinical Surveillance. (PubMed, Blood)
    We report eight patients with ANKRD26-related thrombocytopenia-2 (ANKRD26-RT) with elevated bone marrow myeloblasts and dysmegakaryopoiesis, without somatic genetic abnormalities or progression to malignancy during long-term observation, findings which may constitute inherent ANKRD26-RT biology rather than progression to myeloid malignancy.
    Journal
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    ANKRD26 (Ankyrin Repeat Domain Containing 26)
    11ms
    Modeling ANKRD26 5'-UTR mutation-related thrombocytopenia in zebrafish. (PubMed, Dis Model Mech)
    ANKRD26 protein levels were also significantly increased in platelets and plasma from patients with immune thrombotic thrombocytopenic purpura compared with those from healthy controls. We conclude that ANKRD26 overexpression, resulting from either hereditary or acquired mechanisms, may contribute to thrombocytopenia, thrombosis, and hematologic malignancies.
    Journal
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    ANKRD26 (Ankyrin Repeat Domain Containing 26)