RÉSUMÉ
Acute promyelocytic leukemia (APL) is characterized by a reciprocal translocation, t(15;17)(q22;q11-21), resulting in the fusion of the promyelocytic leukemia (PML) and retinoic acid receptor alpha (RARalpha) genes. Using conventional cytogenetic methods, these translocations are normally detected in about 70-90% of patients; most negative results are due to technical problems or cryptic variants. These masked PML/RARalpha fusions can be identified by molecular analyses, such as reverse transcriptase-polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization (FISH). Approximately 5 to 10% of all APL cases reported do not show PML/RARalpha fusion transcripts, even with dual-colored FISH. We report three of 40 diagnosed APL cases that showed morphological, cytochemical, and immunophenotypic features of hypergranular APL, but did not show a PML/RARalpha fusion signal or any of its variants, on FISH. All cases were identified by RT-PCR, which was further confirmed by cDNA sequencing. Conventional karyotyping showed other clonal aberrations in these cases, but failed to show t(15;17) or any other variants or complex translocations.
Sujet(s)
Chromosomes humains de la paire 15/génétique , Chromosomes humains de la paire 17/génétique , Protéines de fusion oncogènes/génétique , Translocation génétique/génétique , Adulte , Femelle , Humains , Hybridation fluorescente in situ , Caryotypage , Mâle , Adulte d'âge moyen , ARN messager/analyseRÉSUMÉ
Trata-se da identificaçäo de quais e como säo produzidos os padröes de conhecimento de Enfermagem no Curso de Mestrado em Enfermagem da UFSC, na tentativa de visualizar o avanço do conhecimento, a partir de um roteiro para a coleta de dados. Analisa as noventa e duas dissertaçöes produzidas, neste curso, de 1978 a 1994, apoiando-se nos padröes de conhecimento propostos por Carper (1978)...