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    BIOMARKER:

    NT5C2 mutation

    i
    Other names: NT5C2, 5'-Nucleotidase Cytosolic II, PNT5, Spastic Paraplegia 45 (Autosomal Recessive), 5'-Nucleotidase (Purine), Cytosolic Type B, Cytosolic Purine 5'-Nucleotidase, SPG65, CN-II, NT5B, GMP, Epididymis Secretory Sperm Binding Protein, Cytosolic 5'-Nucleotidase II, Purine 5' Nucleotidase, IMP-Specific 5'-NT, SPG45, NT5C2, NT5CP
    Entrez ID:
    22978
    Related biomarkers:
    Mutation
    over1year
    GENOMIC AND TRANSCRIPTOMIC PROFILING REVEALS NOVEL GENE FUSIONS AND MARKERS OF CLINICAL RESPONSE IN PEDIATRIC ACUTE LYMPHOBLASTIC LEUKEMIA (EHA 2023)
    With novel gene fusions and uncovered associations between the dynamics of MRD decline, TP53 and RUNX1 high burden mutations in this real-world cohort, our dataset provides valuable, clinically relevant insights to the genomic and transcriptomic landscape of children diagnosed with ALL. Pediatric, ALL, Prognosis, Mutation analysis
    Clinical
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BCR (BCR Activator Of RhoGEF And GTPase) • PTEN (Phosphatase and tensin homolog) • NOTCH1 (Notch 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • CRLF2 (Cytokine Receptor Like Factor 2) • IKZF1 (IKAROS Family Zinc Finger 1) • WT1 (WT1 Transcription Factor) • NT5C2 (5'-Nucleotidase Cytosolic II) • PAX5 (Paired Box 5) • TCF3 (Transcription Factor 3) • P2RY8 (P2Y Receptor Family Member 8) • PBX1 (PBX Homeobox 1) • CCND3 (Cyclin D3) • PHF6 (PHD Finger Protein 6)
    |
    TP53 mutation • BCR-ABL1 fusion • RUNX1 mutation • IKZF1 deletion • WT1 mutation • NT5C2 mutation • ETV6 mutation • NT5C mutation • PAX5 fusion • ABL1 deletion
    |
    TruSight RNA Pan-Cancer Panel
    2years
    Pharmacological inhibition of NT5C2 reverses genetic and non-genetic drivers of 6-MP resistance in acute lymphoblastic leukemia. (PubMed, Cancer Discov)
    Low-intensity maintenance therapy with 6-mercaptopurine (6-MP) limits the occurrence of acute lymphoblastic leukemia (ALL) relapse and is central to the success of multiagent chemotherapy protocols...Importantly, CRCD2 treatment also enhanced the cytotoxic activity of 6-MP in NT5C2 wild type leukemias leading to the identification of NT5C2 S502 phosphorylation as a novel NT5C2-mediated mechanism of 6-MP resistance in this disease. These results uncover an unanticipated role of non-genetic NT5C2 activation as a driver of 6-MP resistance in ALL and demonstrate the potential of NT5C2 inhibitor therapy for enhancing the efficacy of thiopurine maintenance therapy and overcoming resistance at relapse.
    Journal
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    NT5C2 (5'-Nucleotidase Cytosolic II)
    |
    NT5C2 mutation • NT5C mutation
    |
    mercaptopurine