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Chronic lymphocytic leukemia (CLL) is a neoplasm characterized by excessive accumulation of B lymphocytes in the peripheral blood, bone marrow and lymph nodes. We assessed the expressions of 22 genes in the p53 pathway in 30 CLL patients and 15 healthy subjects by a RT2 Profiler PCR (polymerase chain reaction) Array technique and their relation to cytogenetic aberrations detected by fluorescent  in situ  hybridization (FISH). Our Student’s  t -test results indicated that  ATM, ATR, BAX, CASP9, CDK4, CDKN2A, CHEK1, CHEK2, E2F3, MCL1, MDM2, MDM4, PCNA, RB1, P53  and BCL2 genes were statistically significant ( p  &lt;0.001). For six genes  (APAF1, CDKN1A, E2F1, GADD45A, PTEN  and  PTX3)  were not statistically significant. The  ATM, ATR, BAX, CASP9, CDK4, CDKN1A, CDKN2A, CHEK1, CHEK2, MDM2, MDM4, PCNA, RB1, P53, E2F1, GADD45A  and  BCL2  genes were found to be upregulated by the 2 -ᐃᐃCt  (relative fold change in gene expression) method. The highest up-regulation was detected in  CDKN2A  and  BCL2  genes, 10.22- and 8.51-fold, respectively. On the other hand, the  PTX3  gene with a fold regulation of 1.84 was found to the highest downregulation. Overall, the  CDNK2A BCL2  and  PTX3  genes are related to the mechanism of the disease in the p53 pathway and may be an important predictor of the prognosis of the disease. The  BCL2  gene may be associated with increased risk of developing CLL. We suggest that the  PTX3  gene may be considered as a marker associated with CLL disease. The  CDKN2A  gene expression seems to play a protective role in CLL.

Relationship between chromosomal aberrations and gene expressions in the p53 pathway in chronic lymphocytic leukemia