Tissue Antigens · 2014 · 12 citations · 5 references
Life SciencesGeneticsHematologyCancer GeneticsHematologic OncologyImmunogeneticsHematologic MalignanciesHistocompatibilityHla MatchingHla TypingHuman Leukocyte Antigen SystemMajor Histocompatibility ComplexClinical RemissionHla AllelesHla Genotype AssociationsHla ImmunogeneticsHuman Leukocyte Antigen TestingMolecular Hla TypingNext-generation Sequencing Hla TypingSomatic Mutation Profiling
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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James Robinson, Jason A. Halliwell, Hamish McWilliam et al. · Nucleic Acids Research · 2012 · 557 citations · Full text
Somatic mutations in the HLA genes of patients with hematological malignancy
Anajane G. Smith, Weixin Fan, Lois Regen et al. · Tissue Antigens · 2012 · 36 citations
Life Sciences, Genetics, Hematology +17