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    BIOMARKER:

    ASXL1 deletion

    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
    3years
    A Phase I/II Study of Sapacitabine and Venetoclax in Relapsed/Refractory Acute Myeloid Leukemia (ASH 2021)
    Previous studies of sapacitabine alone and alternating with decitabine (DAC) have demonstrated activity in acute myeloid leukemia (AML). In a heavily pretreated population of patients with R/R AML, the combination of sapacitabine and VEN was well tolerated and feasible to be administered as a completely oral, outpatient regimen. Most patients had multiple prior cycles of nucleoside analogue containing regimens and the only notable responder had only prior DAC. Further study of this well-tolerated combination in less heavily pretreated patients may be considered.
    P1/2 data • IO biomarker
    |
    TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • WT1 (WT1 Transcription Factor)
    |
    TP53 mutation • ASXL1 mutation • NRAS G13 • ASXL1 deletion
    |
    Venclexta (venetoclax) • decitabine • sapacitabine (CYC682)
    over3years
    Myelodysplastic syndromes with 20q deletion: incidence, prognostic value and impact on response to azacitidine of ASXL1 chromosomal deletion and genetic mutations. (PubMed, Br J Haematol)
    HAP1 cells showed more resistance to AZA compared to HAP1 cells. In conclusion, ASXL1 alteration exerts a negative impact on MDS with del(20q) and could become useful for prognostic risk stratification and treatment decisions.
    Journal
    |
    TP53 (Tumor protein P53) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1)
    |
    TP53 mutation • ASXL1 mutation • U2AF1 mutation • ASXL1 deletion
    |
    azacitidine
    over3years
    [VIRTUAL] In vivo CRISPR/Cas9 models of microsatellite instable colon cancer reveal recurrent mutations in putative tumor supressor genes (AACR 2021)
    Further assessment of tumorigenesis in vivo will be performed to confirm the role of these putative tumor suppressors. Altogether, these genetically manipulable systems can be used for rapid functional interrogation of tumor suppressor genes, facilitating downstream mechanistic studies and preclinical testing of therapies in these important subsets of CRC.
    Preclinical • Tumor Mutational Burden • PD(L)-1 Biomarker • IO biomarker
    |
    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • ASXL1 (ASXL Transcriptional Regulator 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • MSH3 (MutS Homolog 3) • ACVR2A (Activin A Receptor Type 2A)
    |
    TMB-H • ASXL1 deletion