Analysis of polymorphism at site -174 G/C of interleukin-6 promoter region in multiple myeloma

It is well established that interleukin-6 (IL-6) is an essential growth factor for multiple myeloma (MM) and patients with increased IL-6 levels have a poor prognosis. In healthy subjects, the presence of the C allele at a polymorphic site (-174 G/C) of the IL-6 gene is related to low IL-6 levels. In view of the potential association of this particular polymorphism with IL-6 concentration, and the relevance of IL-6 in MM pathogenesis, the objective of the present study was to investigate the prevalence of IL-6 (-174 G/C) promoter polymorphism and its association with development of MM in Brazilian individuals. We investigated the prevalence of these alleles in 52 patients and 60 healthy subjects (matched by age, sex, and race) of a Brazilian population. Thirty patients were male (42.4%), 24 (46.2%) were white and the median age at diagnosis was 58.5 years (range: 28 to 84 years). To determine the IL-6 (-174 G/C) polymorphism, molecular analysis was performed by polymerase chain reaction followed by endonuclease restriction digestion. The genotype distributions observed in the group of patients were 4% CC, 42% GC and 54% GG. The C allele frequency was 0.25. These results were similar to the control group, suggesting no impact of this polymorphism on the susceptibility to MM

Leucemia mielóide aguda Ph1-positivo de novo ou crise blástica de leucemia mielóide crônica? Análise molecular e evolução clínica de um caso Molecular analysis and clinical evolution of one case of Ph1-positive acute myeloid leukemia (AML)

Os autores relatam um caso de leucemia mielóide aguda (LMA) que apresentava, ao diagnóstico, basofilia no sangue periférico e cariótipo com presença do cromossomo Filadélfia (Ph1). Após um ano de tratamento com quimioterapia intensiva e em fase de remissão clínica e hematológica, a análise molecular pela técnica da reação em cadeia da polimerase-transcriptase reversa (RT-PCR) revelou presença de doença residual (rearranjo b2-a2). A seguir, o paciente apresentou primeira recidiva como LMA e, após a remissão, evoluiu com quadro hematológico sugestivo de leucemia mielóide crônica (LMC) em fase crônica. Após dez meses, apresentou nova recidiva da LMA. Os autores discutem a dificuldade do diagnóstico diferencial entre LMA Ph1-positivo de novo e crise blástica mielóide como primeira manifestação clínica da LMC, baseados nos aspectos clínicos e moleculares.<br>A case of AML presented with basophilia in peripheral blood and Ph1 chromosome in karyotype analysis is reported. After one year of treatment with intensive chemoterapy and clinical and hematological remission, molecular analysis (RT-PCR) detected minimal residual disease (b2-a2 rearrangement). Thus, the patient relapsed as AML and, after second remission, he developed a hematological picture of chronic CML. Ten months later, he relapsed again as AML. The difficulties of diagnosis between AML Ph1-positive de novo and myeloid blast crisis of CML, as the first manifestation of disease, based on clinical and molecular aspects are discussed

Plasmablastic multiple myeloma is associated with increased vascular endothelial growth factor immunoexpression

The biologic basis of the negative prognosis of plasmablastic myeloma is not fully understood. To determine whether histologically aggressive multiple myeloma (MM) is associated with a more angiogenic marrow environment, bone marrow samples from 50 recently diagnosed MM patients were evaluated. Twelve percent (6/50) of patients presented plasmablastic MM, and this feature correlated with moderate/strong intensity of vascular endothelial growth factor staining of plasma cells (P = 0.036). Although plasmablastic MM was not associated with increasing of microvessel density, this new evidence of increased expression of vascular endothelial growth factor on plasmablasts suggests that the adverse prognosis conferred by plasmablastic disease may be due, at least in part, to secretion of this angiogenic cytokine, also suggesting that the subset of MM patients with plasmablastic features may derive particular benefit from antiangiogenic therapies