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Diffuse large B-cell lymphoma (DLBCL) is a genetically heterogeneous neoplasm. Although several genetic and environmental factors have been postulated, no obvious risk factors have been emerged for DLBCL in the general population. DNA repair systems are responsible for maintaining the integrity of the genome and protecting it against genetic alterations that can lead to malignant transformation. The current study aimed at investigating the possible role of ERCC2/XPD Arg156Arg, Asp312Asn and Lys751Gln genetic polymorphisms as risk factors for DLBCL in Egypt. The study included 81 DLBCL patients and 100 healthy controls. Genotyping of the studied genetic polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism technique. Our results revealed that there was no statistical difference encountered in the distribution of -Asp312Asn and -Lys751Gln polymorphic genotypes between DLBCL cases and controls, thus it could not considered as molecular risk factors for DLBCL in Egyptians. However, Arg156Arg polymorphism at exon-6 conferred twofold increased risk of DLBCL (OR 2.034, 95 %CI 1.015-4.35, p = 0.43), and the risk increased when co-inherited with Lys751Gln at exon-23 (OR 3.304, 95 %CI 1.113-9.812, p = 0.038). In conclusion, ERCC2/XPD Arg156Arg polymorphism might be considered as a genetic risk factor for DLBCL in Egyptians, whether alone or conjoined with Lys751Gln.

Background: Acute and chronic myeloid leukemia are initiated and sustained by a small, self-renewing population of leukemic stem cells, which produce progeny of a heterogeneous population of progenitor cells. CXCL12, a chemokine abundantly produced by the bone marrow microenvironment, and its receptor CXCR4 have crucial roles in malignant cell trafficking. We set out to determine the CXCL12 gene polymorphism at codon G801A and evaluate its influence on malignant cell dissemination and tissue infiltration in myeloid leukemias. Methods: Genotyping for CXCL12 was done by restriction PCR-RFLP for 48 myeloid leukemia patients: 38 de novo AML and 10 CML. Fifty age and gender matched volunteers were evaluated as controls. Results: Regarding AML patients, the frequency of wild genotype was 50% and the heterozygous genotype was 50%. In CML patients, the frequency of wild genotype was 30% while the heterozygous genotype was 70%. In the control group, 57.2% had wild genotype while 42.8% had heterozygous genotype with no significant difference detected between myeloid leukemia patients and the control group. There was a statistically insignificant association between wild and heterozygous genotypes regarding clinical, laboratory data and extramedullary dissemination. Conclusions: CXCL12 polymorphism is not associated with either increased myeloid leukemia risk or extramedullary blast dissemination.

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