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.

• 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

The new HLA-A*02:395N allele differs from A*02:01:01 at one nucleotide position in the exon 2.

• MeSH
• Alleles * MeSH
• Tissue Donors MeSH
• Databases, Genetic MeSH
• Exons genetics   MeSH
• HLA-A2 Antigen genetics   MeSH
• Polymorphism, Single Nucleotide MeSH
• Humans MeSH
• Codon, Nonsense genetics   MeSH
• Codon, Terminator genetics   MeSH
• Histocompatibility Testing MeSH
• Check Tag
• Humans MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Czech Republic MeSH

• MeSH
• Hemolysis etiology   MeSH
• HLA-A2 Antigen immunology   adverse effects   MeSH
• HLA-B Antigens immunology   adverse effects   MeSH
• Blood Transfusion MeSH
• Humans MeSH
• Transfusion Reaction MeSH
• Check Tag
• Humans MeSH
• Publication type
• Case Reports MeSH
• Congress MeSH

• MeSH
• HLA Antigens MeSH
• HLA-A2 Antigen MeSH
• HLA-DR7 Antigen MeSH
• Humans MeSH
• Vitiligo etiology   immunology   MeSH
• Check Tag
• Humans MeSH

• MeSH
• Lymphocyte Activation MeSH
• HLA-A Antigens physiology   blood   MeSH
• HLA-A2 Antigen physiology   blood   MeSH
• Humans MeSH
• Check Tag
• Humans MeSH