Mutations of the p53 gene in myelodysplastic syndrome (MDS) and MDS-derived leukemia.

摘要: The p53 gene is currently thought to be a tumor suppressor gene, and its alterations have been suggested involved in the pathogenesis of several human malignancies, including some leukemias lymphomas. We present here evidence for possible involvement mutations myelodysplastic syndrome (MDS), although incidence relatively low. Forty-four patients with MDS six overt that developed from were studied using reverse transcriptase-polymerase chain reaction, single-strand conformation polymorphism analysis, nucleotide sequencing. Three (2 RAEB 1 T) had missense point conserved regions coding sequence. Furthermore, expression wild-type mRNA was not detected these three patients. probable absence normal function cases suggests may occasionally play role MDS. These an MDS-derived erythroleukemia cell line we previously reported carry mutation showed no N-ras mutations, suggesting heterogeneity oncogenic mechanism