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. 2022 Mar 12;23(6):3067. doi: 10.3390/ijms23063067

Table 3.

Characteristics of genes, their mutations, and pathological and therapeutic effects responsible for resistance to steroids and purine analogs.

Gene and Locus Gene Mutation Effects on Pathology Effects on Treatment
NT5C2 (locus 10q24.32-q24.33) High expression Controls the number of purine nucleotides in the cell and their outflow Resistance to 6-MP
PRSP1 (locus Xq22.2), PRSP2 (locus Xq22.3) Low expression Purine and pyrimidine biosynthesis disorder Resistance to 6-MP and 6-TG
MSH6 (locu 2p16.3) Hemizygous deletion, downregulation Despite the presence of thiopurines, the loss of MSH6 produces a lack of cell apoptosis, which leads to an increase in blast survival Resistance to 6-MP and prednisone
SETD2 (locus 3p21.3) Loss-of-function, frameshift, nonsense mutations, low expression Tumor suppression is absent Resistance to 6-MP