C/EBP-beta, C/EBP-delta, PU.1, AML1 genes: mutational analysis in 381 samples of hematopoietic and solid malignancies.

Mutations of transcription factors are associated with the pathogenesis of cancer. Genomic DNA from 381 cancers and cell lines representing leukemias, lymphomas and a variety of solid tumors were examined for mutations of genes coding for the C/EBP-beta, C/EBP-alpha, PU.1, and AML1 transcription factors using single strand conformation polymorphism (SSCP) and direct DNA sequencing. Mutation of C/EBP-beta (a chronic myelogenous leukemia cell line, Kcl22) and C/EBP-delta (a Burkitt's lymphoma cell line, Raji) were found. Interestingly, the sample with a C/EBP-beta alterations had two missense (P236L and G252A) and two silent mutations in a highly conserved region of the gene. The C/EBP-delta alteration in Raji was a missense mutation (A177G). These findings suggest that mutations of the C/EBP-beta, C/EBP-delta, PU.1, and AML1 rarely contribute to the development of hematopoietic or solid cancers.