Hereditary hemochromatosis (HH) is the most common genetic disorder occurring in individuals of northern Rev. bras. hematol. hemoter. 2006;28(4):293-295.
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.
Os linfomas primários da mama (LPM) são neoplasias incomuns, representando aproximadamente 0,5% das neoplasias mamárias e 2% dos linfomas extra nodais. Os sintomas associados ao LPM são semelhantes aos encontrados em outras lesões malignas da mama. A histologia associada à imuno-histoquímica (IHQ) é fundamental para o diagnóstico desses tumores, os quais, em sua maioria, apresentam-se imunofenotipicamente derivados da linhagem B. A sua raridade ainda não permitiu a padronização da terapêutica mais apropriada. O presente relato consiste em uma paciente apresentando nódulo em mama direita há aproximadamente seis meses, de grande volume, acometendo toda a extensão da mama direita e parte da mama esquerda, endurecido, fixo em plano profundo e infiltrando parte da pele sobre o tumor. O exame de ultrassonografia mamária mostrou a presença de nódulo heterogêneo, irregular, com espessamento de pele, ocupando toda a mama direita, de aproximadamente 16,0 cm de diâmetro, infiltrando parte do seio intermamário. A core-biopsy da lesão foi inconclusiva e a imunoistoquímica foi positiva para CD 20, Bcl-2, MUM-1 e 50% para Ki-67, sendo compatível com infiltração por linfoma não Hodgkin de grandes células B, não centro germinativo. Após avaliação dos exames, a paciente foi estadiada como IVa de Ann Harbor sendo programado tratamento com quimioterapia. No momento, a paciente encontra-se em vigência do tratamento proposto.
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