MDR-1 gene polymorphisms G2677T and C3435T in a case of Hodgkin's variant of Richter's syndrome

Richter's syndrome is defined as the transformation of low-grade lymphoma to a more aggressive high-grade malignant form, usually diffuse large B-cell lymphoma. Hodgkin's lymphoma variant of Richter transformation is relatively rare, and only approximately 100 cases have been reported in the literature. This study examined a case of a 53-year-old woman who developed Hodgkin's lymphoma almost 5 years after the diagnosis of chronic lymphocytic leukemia (CLL). The major points of interest regarding CLL with Hodgkin's transformation were also considered, such as the potential role of MDR-1 gene polymorphisms. The patient was evaluated for two MDR-1 gene polymorphisms, G2677T polymorphism in exon 21 and silent C3435T polymorphism in exon 26, to ascertain whether polymorphisms affect the risk of Hodgkin's lymphoma variant of Richter transformation and whether genomic polymorphisms provide prognostic information on the clinical progression of the disease. According to the data obtained, the analysis of polymorphisms in the MDR1 gene exons 21 and 26 revealed that the T2677T and T3435T alleles are not a predisposing factor to Richter transformation, while the presence of the wild-type genotype may be associated with a more favorable response to therapy.