RESUMO
In this report, we describe a case of somatic mutations in the two HLA-B genes in a patient with acute myelogenous leukemia. The HLA-B*15:01 allele showed an insertion of two nucleotides within exon 2 leading to a premature stop codon. HLA-B*40:01 showed one nucleotide substitution within exon 3, identical to that described for B*15:258N. The restriction of these mutations in leukemic cells was confirmed in patient's samples from buccal epithelial cells and hematopoietic cells obtained when the patient was in remission. The clinical significance of somatic HLA mutations in cancer seems to be associated with escape from immune surveillance and clonal evolution. The analysis of possible mutations in HLA genes of tumor cells would be valuable information for the outcome of the disease and stem cell donor selection.
Assuntos
Códon sem Sentido , Antígenos HLA-B/genética , Leucemia Mieloide Aguda/genética , Alelos , Éxons , Feminino , Perfilação da Expressão Gênica , Células-Tronco Hematopoéticas/metabolismo , Humanos , Cariotipagem , Perda de Heterozigosidade , Proteínas Nucleares/genética , Nucleofosmina , Dissomia Uniparental , Tirosina Quinase 3 Semelhante a fms/genéticaRESUMO
The new HLA alleles HLA-B*56:55:01:02, -C*03:374 and -DPB1*13:01:03 were characterized by NGS methodology.