RESUMOOBJETIVOSEstudar a expressão das proteínas Bcl-2, Bcl-x, assim como a presença da caspase-3 clivada em neurofibromas e tumores malignos da bainha do nervo periférico. A expressão de Bcl-2 e Bcl-x e a presença da caspases-3 clivada foram comparadas com as características clinicopatológicas dos tumores malignos da bainha do nervo periférico e seu impacto nas curvas de sobrevida também foi investigado.MATERIAIS E MéTODOSA avaliação das proteínas Bcl-2, Bcl-x e caspases-3 clivada foi realizada em 28 tumores malignos da bainha do nervo periférico e 38 neurofibromas, por imuno-histoquímica, utilizando microarrays de tecidos. A imunoquantificação foi realizada por análise computadorizada de imagem digital.CONCLUSÕESA apoptose está alterada nos neurofibromas e principalmente em tumores malignos da bainha do nervo periférico. Altos níveis de caspase-3 clivada é mais comum em tumores com características histopatológicas mais agressivas e estão associados com baixa sobrevida livre de doença em indivíduos com tumor maligno da bainha do nervo periférico.

ABSTRACTAIMSTo study the expression of Bcl-2, Bcl-x, as well the presence of cleaved caspase-3 in neurofibromas and malignant peripheral nerve sheath tumors. The expression of Bcl-2 and Bcl-x and the presence of cleaved caspase 3 were compared to clinicopathological features of malignant peripheral nerve sheath tumors and their impact on survival rates were also investigated.MATERIALS AND METHODSThe evaluation of Bcl-2, Bcl-x and cleaved caspase-3 was performed by immunohistochemistry using tissue microarrays in 28 malignant peripheral nerve sheath tumors and 38 neurofibromas. Immunoquantification was performed by computerized digital image analysis.CONCLUSIONSApoptosis is altered in neurofibromas and mainly in malignant peripheral nerve sheath tumors. High levels of cleaved caspase-3 are more common in tumors with more aggressive histological features and it is associated with lower disease free survival of patients with malignant peripheral nerve sheath tumors.

The [Delta]F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilian CF patients and their 17 families by use of PCR and differential hybridization with oligonucleotides. In a total of 34 chromosomes considered, 12 (35%) carried the F508 deletion, a frequency much lower than that reported in most other populations. As a consequence, CF in Brazil would be predominantly caused by mutations different from the F508 deletion