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NT5C2
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Interpretation 42
Tier 1
NT5C2
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
B Lymphoblastic Leukemia/Lymphoma
T Lymphoblastic Leukemia/Lymphoma
Interpretation

The cytosolic 5'-nucleotidase II gene (NT5C2), encodes a 5'-nucleotidase that is responsible for the inactivation of nucleoside-analog chemotherapy drugs. NT5C2 dephosphorylates and inactivates 6-thioinositol monophosphate and 6-thioguanosine monophosphate which mediate the cytotoxic effects of 6-mercaptopurine (6-MP) and 6-thioguanine (6-TG), two nucleoside analogs commonly used in the treatment of ALL. Activating mutations of NT5C2 have been reported in 19%of relapsed T cell ALLs and 3-10% of relapsed B-precursor ALLs. NT5C2 mutant proteins show increased nucleotidase activity and conferred resistance to chemotherapy with 6-mercaptopurine and 6-thioguanine, suggesting that relapse-specific mutations in NT5C2 may act as a mechanism of resistance to 6-MP and a genetic driver of relapse in ALL.

Citations
  1. Tzoneva G, et al. Activating mutations in the NT5C2 nucleotidase gene drive chemotherapy resistance in relapsed ALL. Nat Med 2013;19(3):368-71
  2. Meyer JA, et al. Relapse-specific mutations in NT5C2 in childhood acute lymphoblastic leukemia. Nat Genet 2013;45(3):290-4
Last updated: 2016-06-05 00:57:49 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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