Somatic mutation in acute myelogenous leukemia cells imitate novel germline HLA-A allele: a case report
Language English Country Great Britain, England Media print-electronic
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
PubMed
24758284
DOI
10.1111/tan.12362
Knihovny.cz E-resources
- Keywords
- human leukocyte antigen typing, major histocompatibility complex, new HLA allele, polymorphism, somatic mutation,
- MeSH
- Leukemia, Myeloid, Acute genetics pathology therapy MeSH
- Alleles MeSH
- Point Mutation * MeSH
- Adult MeSH
- Exons genetics MeSH
- HLA-A2 Antigen genetics MeSH
- Remission Induction MeSH
- Humans MeSH
- Mutation, Missense * MeSH
- Molecular Sequence Data MeSH
- Neoplastic Stem Cells chemistry MeSH
- Base Sequence MeSH
- Siblings MeSH
- Amino Acid Substitution MeSH
- Histocompatibility Testing MeSH
- Hematopoietic Stem Cell Transplantation MeSH
- Germ-Line Mutation MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- HLA-A*02:01 antigen MeSH Browser
- HLA-A2 Antigen MeSH
A somatic mutation of the human leukocyte antigen (HLA)-A gene revealed in tumour cells of acute myelogenous leukemia (AML) is described. A patient with AML and her siblings were routinely typed for HLA in order to find a suitable donor for haematopoietic stem cell transplantation. Sequencing-based typing of the initial patient's sample characterized by high proportion of blasts revealed unknown G/A exchange at position 781 of the HLA-A gene (exon 4) associated with HLA-A*02:01 allele. Importantly, this G781A variant was completely absent in the patient's remission sample obtained after the clearance of blasts. Our results are a reminder that HLA mutations in tumour cells may interfere with routine HLA typing and should always be considered, namely, in patients with haematological malignancies.
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