Polymorphisms of DNA repair genes are related to the pathogenesis of myelodysplastic syndrome.

Some studies show that alterations in DNA repair genes polymorphisms are associated with the pathogenesis and susceptibility of Myelodysplastic Syndrome (MDS). We genotyped 60 MDS patients for six DNA repair gene polymorphisms: BRCA1 rs4793191, BRCA2 rs9567623, RAD51 rs1801320, XRCC5 rs3835, XRCC6 rs2267437 and LIG4 rs1805388. The G/C heterozygote genotype of rs1801320 polymorphism was associated with a decreased chance of developing MDS (p = 0.05). Additionally, the G/G homozygous genotype was associated with the presence of one cytopenia in whole blood. The genotype C/G and CG + GG of the rs2267437 polymorphism was associated with normal karyotype (p = 0.010) and bone marrow cellularity normocellular + hypercellular (p = 0.023). We found that the A/G heterozygous genotype of the rs3835 polymorphism is associated with decreased chance of developing MDS (p < 0.001). These results support the importance of RAD51, XRCC5 and XRCC6 genes polymorphisms in the maintenance of genomic stability promoting a better understanding of the genesis and etiology of MDS.

Primary cardiac lymphoblastic B-cell lymphoma: Should we treat more intensively?

Primary cardiac lymphoma (PCL) is a rare neoplasm, the majority of cases of which are non-Hodgkin's, diffuse large B-cell (DLBCL). We report the first case of an adult with PCL B-cell lymphoblastic lymphoma whose disease evolution was grim. A 52-year-old male reported dyspnea and facial swelling lasting for 4 months and upon a physical examination he presented bradycardia, jugular venous engorgement, and hypophonesis of cardiac sounds. An electrocardiography (Echo) revealed a right atrial mass and nodules at the pericardium. The patient was treated with R-Hyper-CVAD (rituximab plus cyclophosphamide, vincristine, doxorubicin, and dexamethasone) and presented very short remission. At this time, we used R-ICE (rituximab plus ifosfamide, carboplatin, and etoposide) chemotherapy and the patient underwent complete remission after two courses and received autologous bone marrow transplantation (auto-BMT). After 75 days of follow-up, the patient reported dyspnea and a new Echo showed a recurrence of the disease. The patient died due to cardiac failure. PCL is a rare disease with an unfavorable prognosis and a prompt diagnosis and treatment are fundamental to survival. We believe that more intensive therapies, such as auto-BMT, should be considered as a first treatment option.