Microsatellite Instability and Frameshift Mutations in BAX and Transforming Growth Factor-β RII Genes Are Very Uncommon in Acute Lymphoblastic Leukemia In Vivo But Not in Cell Lines

摘要: Mutations in the DNA mismatch repair (MMR) system lead to an instability of simple repetitive sequences involved several cancer types. This is reflected a high mutation rate microsatellites, and recent studies colon indicate that defects MMR result frequent frameshift mutations mononucleotide repeats located coding regions BAX transforming growth factor-β (TGF-β) receptor genes. Circumstantial evidence suggests defect may be some lymphoid malignancies, although allelotype analyses have concluded on low level microsatellite acute lymphoblastic leukemias. To further evaluate implication leukemogenesis, we studied series 98 children with leukemia 14 leukemic cell lines using indicators defects. Microsatellite markers were compared between blast normal from same patients sought repeat TGF-β II (TGF-β RII). The absence (MI) genes examined patient's cells contrasted observation half displayed degree MI three seven these mutator harbored and/or RII. From results conclude are very uncommon freshly isolated blasts but likely selected for during establishment lines.