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Somatic mutation in the two HLA‐B genes of a patient with acute myelogenous leukemia
Author(s) -
Balas Antonio,
Planelles Dolores,
Goterris Rosa,
RodríguezCebriá Manuel,
Vicario José L.
Publication year - 2019
Publication title -
hla
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.347
H-Index - 99
eISSN - 2059-2310
pISSN - 2059-2302
DOI - 10.1111/tan.13640
Subject(s) - somatic cell , leukemia , biology , human leukocyte antigen , mutation , genetics , gene , hla b , cancer research , allele , antigen
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.