Analysis of p53 mutations in a large series of lymphoid hematologic malignancies of childhood

摘要: p53 mutations are found in a wide variety of cancers, including hematologic malignancies. These alterations apparently contribute to development the malignant phenotype. We analyzed large series lymphoid (330 cases) and smaller myeloid (29 malignancies childhood for by single-strand conformational polymorphism (SSCP) following polymerase chain reaction. Samples with abnormal SSCP were reamplified direct sequencing method. detected within known mutational hotspots (exons 5 8) 8 330 malignancies, none 29 showing that frequency was very low (8 cases [2%]). Four these patients had aggressive, fatal acute lymphocytic leukemia (ALL). None 13 infants 48 T-lineage detectable their ALL cells. Exceptionally, comparatively frequent small sample B-cell non-Hodgkin's lymphomas (2 cases). Mutations samples from two at relapse; not initial diagnosis same patients, suggesting may be associated progression more Seven eight missense mutations, seven heterozygous mutant p53, indicating protein act dominant negative fashion.