Identificação das deleções e mutações do gene P53 em pacientes com mieloma multiplo

AUTOR(ES)

Manoela Marques Ortega

DATA DE PUBLICAÇÃO

2002

RESUMO

Multiple myeloma (MM) is a neoplastic disease characterized by the accumulation of plasma cells in the bone marrow (BM) with consequent osteolysis, comprimising hematopoiesis and the synthesis of normal immunoglobins and the production of monoclonal immunoglobin or its fragments. The survival observed for patients with the disease varies from a few months to ten years or more, which makes the search for prognostic factors for the identification of groups which require more aggressive treatment for the control of the disease. Abnormalities of the karyotype have been described, in general, as factors with desfavorable prognostic value. On the other hand, the prognostic values of the numerical abnormalities of chromosome 17, and of the deletions and mutations of the p53 gene have not been sufficiently established as prognostic values in patients with MM. Thus, these were the objectives of this study. To view these objectives, 60 patients with MM were evaluated in the period of March, 1999 to December, 2000. The evaluation of the numerical abnormalities of chromossome 17 was performed by cytogenetic analysis and by the fluorescence in situ hybridization method (FISH), whilst the evaluation of p53 deletions was performed by FISH. The evaluation of p53 gene mutations was carried out using polymerase chain reaction, single strand conformation polymorphism and the sequencing. No mutations in the p53 gene were detected in any of the patients enroled in the study. In contrast, deletions of the gene, predominantly monoallelic, were identified in 15.7% of them. Furthermore, we observed that patients with p53 deletions demonstrated a lower probability of survival than those without gene deletion (P= 0.0006). The median survival time of the patients of the first group was lower than that observed in the second group of patients (7.5 and 17.0 months, respectively; P= 0.05). From these results, we may conclude that deletion of the p53 gene constituted a predictive factor of shorter survival, in our cases

ASSUNTO(S)

mutação (biologia) mieloma multiplo cromossomos

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