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    BIOMARKER:

    MEF2D-CSF1R fusion

    i
    Other names: MEF2D, Myocyte Enhancer Factor 2D, Myocyte-Specific Enhancer Factor 2D, MADS Box Transcription Enhancer Factor 2, Polypeptide D
    Entrez ID:
    4209
    2years
    RNASeq Analysis for Accurate Identification of Fusion Partners in Tumor Specific Translocations Detected by Standard FISH Probes in Hematologic Malignancies. (PubMed, Clin Pathol)
    These are 3 cases in a series of several other concordant results, nevertheless, elucidate limitations when interpreting FISH results in clinical applications, particularly when other genes are included in probe design. In addition, when the observed FISH signals are atypical, this study illustrates the necessity to perform complementary laboratory assays, such as NGS and/or RNASeq, to accurately identify fusion genes in tumorigenic translocations.
    Journal
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    FGFR3 (Fibroblast growth factor receptor 3) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • CSF1R (Colony stimulating factor 1 receptor) • MEF2D (Myocyte Enhancer Factor 2D) • PVT1 (Pvt1 Oncogene) • NSD2 (Nuclear Receptor Binding SET Domain Protein 2)
    |
    FGFR3 fusion • MYC positive • FGFR3 positive • MEF2D-CSF1R fusion
    over2years
    Nanopore Cas9-Targeted Long-Read Sequencing - a Fast and Flexible Diagnostic Tool for the Identification of B-Cell Acute Lymphoblastic Leukemia Associated Gene Rearrangements (ASH 2023)
    In conclusion, our newly developed targeted sequencing panel correctly identified 96.3% (26/27) analyzed gene rearrangements in B-ALL, including alterations evading standard diagnostic methodologies such as IGH::DUX4 or IGH::EPOR. Importantly, the assay allows individual analysis in a single sample format, thereby representing a valuable tool for B-ALL diagnostics in small to medium-sized laboratories.
    IO biomarker
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    ABL1 (ABL proto-oncogene 1) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • BCL2 (B-cell CLL/lymphoma 2) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • ETV6 (ETS Variant Transcription Factor 6) • CRLF2 (Cytokine Receptor Like Factor 2) • PAX5 (Paired Box 5) • AFF1 (AF4/FMR2 Family Member 1) • EP300 (E1A binding protein p300) • P2RY8 (P2Y Receptor Family Member 8) • CSF1R (Colony stimulating factor 1 receptor) • EBF1 (EBF Transcription Factor 1) • MEF2D (Myocyte Enhancer Factor 2D) • SSBP2 (Single Stranded DNA Binding Protein 2) • BCL9 (BCL9 Transcription Coactivator) • DUX4 (Double Homeobox 4) • MLLT10 (MLLT10 Histone Lysine Methyltransferase DOT1L Cofactor) • ZNF384 (Zinc Finger Protein 384)
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    MYC translocation • MEF2D-CSF1R fusion
    5years
    [VIRTUAL] Genetic and genomic characterisation of older adults with acute lymphoblastic leukemia treated on the UKALL14 and UKALL60 + clinical trials (BSH-I 2020)
    These patients appear genetically distinct to younger adults with primary genetic abnormality unidentified in a significant proportion. Hence the need for further genomic studies in older adults.
    Clinical
    |
    ABL1 (ABL proto-oncogene 1) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • JAK2 (Janus kinase 2) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • ETV6 (ETS Variant Transcription Factor 6) • CRLF2 (Cytokine Receptor Like Factor 2) • IKZF1 (IKAROS Family Zinc Finger 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • PAX5 (Paired Box 5) • KDM6A (Lysine Demethylase 6A) • ABL2 (ABL Proto-Oncogene 2, Non-Receptor Tyrosine Kinase) • CSF1R (Colony stimulating factor 1 receptor) • COL1A1 (Collagen Type I Alpha 1 Chain) • EBF1 (EBF Transcription Factor 1) • MEF2D (Myocyte Enhancer Factor 2D)
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    CDKN2A deletion • MLL rearrangement • CRLF2 rearrangement • JAK2 rearrangement • MEF2D-CSF1R fusion
    over5years
    [VIRTUAL] Molecular Subtypes with Distinct Clinical Phenotypes and Actionable Targets in Adult B Cell Precursor ALL Treatment According to GMALL Protocols (ASH 2020)
    We observe that sex-specific host factors favor the selection of leukemogenic drivers (male predominance: Ph-like, NH-HeH, female predominance: DUX4, KMT2A). ZNF384 ALL seems to be associated with unfavorable therapy response in adults and shares JAK/STAT activation patterns with Ph-like ALL.
    Clinical • IO biomarker
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    ABL1 (ABL proto-oncogene 1) • BCL2 (B-cell CLL/lymphoma 2) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • RUNX1 (RUNX Family Transcription Factor 1) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • ETV6 (ETS Variant Transcription Factor 6) • PAX5 (Paired Box 5) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • CSF1R (Colony stimulating factor 1 receptor) • MEF2D (Myocyte Enhancer Factor 2D)
    |
    NTRK3 fusion • ETV6-NTRK3 fusion • MLL rearrangement • MEF2D-CSF1R fusion