ABSTRACT
Introdução: A proteína BCL2 encontrada na membrana mitocondrial interna, regula a apoptose inibindo a morte celular programada. A translocação (14;18), detectada em 70 a 85% dos linfomas foliculares, leva a superexpressão da proteína BCL2, pela justaposição do gene BCL2 ao segmento JH do gene da cadeia pesada da imunoglobulina. Porém, os achados da expressão da BCL2 em carcinoma de cabeça e pescoço são contraditórios. Objetivo: Investigar a presença da translocação (14;18) do gene BCL2 em carcinomas de cabeça e pescoço. Método: Foram examinadas 16 amostras de DNA, sendo 13 de carcinomas de células escamosas (CCE) e 3 de epidermoide (CE), por meio da reação em cadeia da polimerase (PCR). Resultados: O rearranjo BCL2/JH foi encontrado em 2 (15%) dos 13 casos de CCE e em nenhum dos 3 casos de CE. A média de frequência de moléculas com rearranjo foi de 46,44 x 107. Não foi observada associação entre a presença de rearranjo e a exposição ao tabaco e álcool (p=0,6545). Conclusão: Diferente dos resultados encontrados em linfomas foliculares a presença da translocação (14;18) em carcinomas de cabeça e pescoço não é comum e, quando ocorre, pode ser uma mutação ocasional não associada a exposição ao tabaco e álcool.
Introduction: The BCL2 protein found in the internal mothocondrial membrana regulates the apoptosis preventing the programmed cell death. The translocation (14:18), detected in 70 to 85% of the follicular lymphoma, lead the super expression of BCL2 protein, by juxtaposition of BCL2 gene to the JH segment of the immunoglobulins' heavy chain gene. However, the found of the BCL2 expression in head and neck carcinoma are contradictious. Objective: To investigate the presence of the translocation (14:18) of the BCL2 gene in head and neck carcinoma. Method: Sixteen DNA samplers were examinated being 13 of squamous cells carcinoma (SCC) and 3 of epidermoid (CE), y means of chain reaction of the polymerase (PCR). Results: The BCL2/JH rearrangement in 2 (15%) of the CCE 13 cases and in none of the 3 cases of CE. The average of the frequency of molecules with rearrangement was 46,44x107. Was not observed association between the rearrangement presence and the exhibition to tobacco and alcohol (p=0, 6545). Conclusion: Different from the results found in follicular lymphoma, the presence of the translocation (14; 18) in head and neck carcinomas is not common and, when it occurs, it can be an occasional mutation not associated to exhibition to the tobacco and alcohol.
Subject(s)
Biopsy , Carcinoma, Squamous Cell , Molecular Biology , Mouth Neoplasms/genetics , Pharyngeal Neoplasms/genetics , Gene Rearrangement/geneticsABSTRACT
The correct identification of all human genes, and their derived transcripts, has not yet been achieved, and it remains one of the major aims of the worldwide genomics community. Computational programs suggest the existence of 30,000 to 40,000 human genes. However, definitive gene identification can only be achieved by experimental approaches. We used two distinct methodologies, one based on the alignment of mouse orthologous sequences to the human genome, and another based on the construction of a high-quality human testis cDNA library, in an attempt to identify new human transcripts within the human genome sequence. We generated 47 complete human transcript sequences, comprising 27 unannotated and 20 annotated sequences. Eight of these transcripts are variants of previously known genes. These transcripts were characterized according to size, number of exons, and chromosomal localization, and a search for protein domains was undertaken based on their putative open reading frames. In silico expression analysis suggests that some of these transcripts are expressed at low levels and in a restricted set of tissues.
Subject(s)
Humans , Animals , Male , Mice , DNA, Complementary/genetics , Genome, Human , Sequence Analysis, DNA/methods , Testis/chemistry , Transcription, Genetic/genetics , Amino Acid Sequence , Chromosome Mapping , Gene Library , Molecular Sequence DataABSTRACT
Human peripheral blood lymphocytes from 10 patients with familial adenomatous polyposis (FAP) showed a significantly higher incidence of chromatid breaks when compared to cells from 10 normal individuals, after exposure to bleomycin (BLM) during the G2 phase. However, no significant increase in bleomycin sensitivity was observed in lymphocytes from 10 patients with sporadic adenomatous polyps (AP) vs. 10 normal individuals (P = 0.67). Individuals that exhibited an average number of chromatid breaks per cell higher than 0.80 were considered sensitive to the drug. No control showed susceptibility to BLM, as compared to 3 out of 20 patients.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Antibiotics, Antineoplastic/pharmacology , Bleomycin/pharmacology , Chromatids , Adenomatous Polyposis Coli/drug therapy , Aged, 80 and over , Chromosome Breakage , Lymphocytes/drug effects , Gardner Syndrome/drug therapy , Sister Chromatid ExchangeABSTRACT
A gravidez gemelar na qual coexistem um feto normal e uma mola completa é um evento raro. Complicaçoes clínicas e aumento de risco de malignizaçao sao de importância nesta patologia. Este trabalho descreve um caso de diagnóstico tardio em decorrência da presença do feto. Este diagnóstico foi feito no momento da resoluçao da gestaçao e confirmado por estudo histopatológico e citometria de fluxo. A resoluçao da gestaçao foi por via transpélvica em decorrência de hemorragia uterina maciça. O seguimento pós-molar evidenciou a persistência de níveis elevados de bhCG, obtendo-se remissao completa da doença com o uso de metotrexato. A luz deste caso, discutem-se o diagnóstico, a história natural e a conduta desta rara intercorrência na clínica obstétrica.