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    BIOMARKER:

    NT5C2 R238W

    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
    2years
    Non-Canonical Exon Usage in Pediatric Leukemia: Implications for Chemoresistance (ASH 2022)
    Instead, relapse-specific mutations occurred in multiple genetic loci often involved in resistance to either glucocorticoids or purine analogs (e.g., 6-mercaptopurine, or 6-MP). Therefore, inclusion of NT5C2 exon 4a phenocopies relapse-specific mutations and could serve as both a valuable predictive biomarker in B-ALL and potentially chronic myelogenous (CML) and acute myeloid leukemia (AML). Additionally, at least in vitro, expression of this non-canonical isoform conferred collateral sensitivity to the purine biosynthesis inhibitor Mizoribine, suggesting the existence of a therapeutic window to treat leukemias with dysregulated splicing.
    Clinical
    |
    NT5C2 (5'-Nucleotidase Cytosolic II)
    |
    NT5C2 R238W
    |
    Bredinin (mizoribine) • mercaptopurine