^
    Contact us  to learn more about
    our Premium Content:  News alerts, weekly reports and conference planners
    BIOMARKER:

    Chr amplification(6p)

    over1year
    Potential molecular mechanisms of ETV6-RUNX1-positive B progenitor cell cluster in acute lymphoblastic leukemia revealed by single-cell RNA sequencing. (PubMed, PeerJ)
    HLAE-KLRC1 and TGFB1-(TGFBR1+TGFBR2). This study outlined the immune cell landscape of ETV6-RUNX1 ALL and identified chromosome 6p amplification in B progenitor cells, described the major B progenitor cell cluster driving cell cycle progression and its potential regulatory mechanisms on NK cells and T cells, providing cellular and molecular insights into ETV6-RUNX1 ALL.
    Journal
    |
    RUNX1 (RUNX Family Transcription Factor 1) • ETV6 (ETS Variant Transcription Factor 6) • TGFBR2 (Transforming Growth Factor Beta Receptor 2) • HLA-E (Major Histocompatibility Complex, Class I, E) • TGFB1 (Transforming Growth Factor Beta 1) • E2F1 (E2F transcription factor 1) • KLRC1 (Killer Cell Lectin Like Receptor C1) • KLRC2 (Killer Cell Lectin Like Receptor C2) • TGFBR1 (Transforming Growth Factor Beta Receptor 1)
    |
    Chr amplification(6p)
    2years
    Single-cell transcriptomics enable the characterization of local extension in retinoblastoma. (PubMed, Commun Biol)
    These results suggest that SOX4 might drive RB local extension. Our study presents a single-cell transcriptomic landscape of intraocular and extraocular RB samples, improving our understanding of RB local extension at the single-cell resolution and providing potential therapeutic targets for RB patients.
    Journal
    |
    SOX4 (SRY-Box Transcription Factor 4)
    |
    Chr amplification(6p)
    over3years
    Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma. (PubMed, Ophthalmic Genet)
    To our knowledge, this is the first time an SCNA has been detected in the blood of an RB patient, suggesting in some advanced eyes there may be a high enough tumor fraction to detect these alterations (>5% needed). It remains unclear whether 6p gain or increased tumor fraction in the blood is indicative of increased risk of metastatic disease or new primary cancer; studies to address this are ongoing.
    Journal
    |
    RB1 (RB Transcriptional Corepressor 1) • APC (APC Regulator Of WNT Signaling Pathway)
    |
    RB1 mutation • Chr amplification(6p)