Stromal Cell Derived Factor-1 (CXCL12) Chemokine Gene Variant in Myeloid Leukemias

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.