Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin's lymphoma. Although the presence of p53 gene mutations has been considered as a bad prognostic feature in DLBCL, its clinical significance is still controversial. The aims of this study were: detect the presence of mutations in exons 5 to 9 of the p53 gene and correlate it to prognosis in DLBCL. Fifty-one DLBCL patients were enrolled in this study. Expression of p53 was evaluated by immunohistochemistry. The screening of p53 mutations was performed using PCR-SSCP methods. Cases showing a mobility shift on SSCP electrophoresis were analyzed by automatic sequencing. We could identify 8 missense mutations in 6 of 48 cases (12.5%). In addition, we found a known polymorphism at codon 213 and 2 instances of silent mutations. Of all mutations/polymorphisms found, 7 (64%) were localized in codons previously described as p53 hot spots in NHL cases. Of the remaining alterations (4 or 36%), 2 mutations were localized in codons previously described as hot spots for p53 in other tumors and 2 (codon 142 of the exon 5 and codon 195 of the exon 6), in codons not described as hot spots for p53 up to now. The presence of missense mutations in exons 5 to 9 of p53 gene had adverse impact on overall survival (P = 0.020). Cox's Regression Model identified that high-risk International Prognostic Index (IPI) and p53 gene mutations have independent negative impact on OS. Therefore, the association of IPI with cellular factors, such as p53 mutation, can be very helpful in deciding when we should indicate more aggressive therapies in patients with DLBCL, to somehow increase the chance of cure in these patients.
Os autores relatam um caso de tumor de células de Sertoli e Leydig (TCSL), estádio Ia, no ovário direito de uma paciente com 10 anos de idade. O tumor era não funcionante e as manifestações iniciais foram dor e aumento do volume abdominal. Ao exame físico palpava-se uma massa endurecida na região hipogástrica. A criança não apresentava sinais de virilização ou puberdade precoce. O tratamento foi realizado com cirurgia; salpingo-ooforectomia direita e biópsia em cunha do ovário esquerdo. Histologicamente o tumor era bem diferenciado e não apresentava elementos heterólogos. A paciente apresenta há 26 meses sobrevida livre de doença. Acreditamos que este seja o primeiro caso de TCSL de ovário em crianças com idade igual ou inferior a 10 anos, publicado na literatura médica brasileira indexada.
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