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    BIOMARKER:

    ASXL1 G646Wfs*12

    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
    7ms
    Overcoming Deficient ASXL1 Mutation Detection by Ion Torrent Oncomine Myeloid NGS Assays: Journey of a Molecular Pathology Lab (AMP 2023)
    The ASXL1 c.1934dupG variant is now routinely detected in myeloid NGS data using Oncomine Myeloid Assay GX v2 at VAF ³ 10%. Variant calls between 5% and 10% VAF are confirmed by orthogonal testing using the PCR sizing assay. The updated pipeline and sizing assay protocol are available to other laboratories.
    Next-generation sequencing
    |
    ASXL1 (ASXL Transcriptional Regulator 1)
    |
    ASXL1 mutation • ASXL1 G646Wfs*12
    |
    Oncomine Myeloid Assay GX • TruSight Myeloid Sequencing Panel
    7ms
    ASXL1 p.G646Wfs*12 Detection Enabled and Integrated into a Rapid Automated Myeloid Variant Profiling Solution on Ion Torrent NGS Genexus System (AMP 2023)
    Variant calling improvements were made in the OMAv2 assay to enable robust detection of challenging variants in low complexity regions including ASXL1 p.G646Wfs*12. The capability to accurately report ASXL1 p.G646Wfs*12 within OMAv2 is important to provide complete results. Within the context of a rapid automated profiling solution, OMAv2 facilitates comprehensive detection of key myeloid variants.
    Next-generation sequencing
    |
    ASXL1 (ASXL Transcriptional Regulator 1)
    |
    ASXL1 mutation • ASXL1 G646Wfs*12
    |
    Oncomine Myeloid Assay GX
    8ms
    Detection of clonal hematopoiesis early after allogeneic hematopoietic stem cell transplantation (HSCT) has similar prognostic relevance for measurable residual disease (MRD) detection as standard markers in acute myeloid leukemia (AML) (DGHO 2023)
    Conclusion : In contrast to its role in chemo consolidation only, MRCH is a feasible marker for MRD assessment in AML pts in CR after HSCT. MRCH-based risk prediction was of similar value as that of established MRD markers & was superior to that of BM CD34 chimerism.
    ABL1 (ABL proto-oncogene 1) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • CD34 (CD34 molecule)
    |
    ASXL1 G646Wfs*12