The formation of a somatic mutation in the HLA-B gene throughout the development of the disease from severe aplastic anaemia to acute myeloid leukaemia
Jazyk angličtina Země Velká Británie, Anglie Médium print
Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem
Grantová podpora
MZ ČR - RVO (ÚHKT CZ00023736)
Czech Ministry of Health - International
PubMed
31733047
DOI
10.1111/tan.13762
Knihovny.cz E-zdroje
- MeSH
- akutní myeloidní leukemie genetika patologie MeSH
- aplastická anemie genetika patologie MeSH
- dospělí MeSH
- HLA-B antigeny genetika MeSH
- lidé MeSH
- mutace * MeSH
- myelodysplastické syndromy genetika patologie MeSH
- nádorová transformace buněk genetika MeSH
- progrese nemoci MeSH
- stupeň závažnosti nemoci MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Názvy látek
- HLA-B antigeny MeSH
We detected a somatic mutation in the HLA-B gene in a Czech hematooncological patient. We followed the development of this somatic mutation during the transition from severe aplastic anaemia through to myelodysplastic syndrome to acute myeloid leukaemia until haploidentical related transplantation. The somatic mutation differs from HLA-B*14:02 in exon 3 resulting in an exchange from cysteine to serine at position 101 of the mature protein. Homology modelling of mutated S101 in HLA-B*14 indicated possible conformational changes, which might also result in an aberrant expression. The assumption is that somatic mutation arose as a possible result of a selection mediated by a protective immune response against leukaemia.
Institute of Experimental Cellular Therapy University Hospital Essen Essen Germany
Institute of Hematology and Blood Transfusion Hematology and Blood Transfusion Prague Czech Republic
Zobrazit více v PubMed
Hewitt EW. The MHC class I antigen presentation pathway: strategies for viral immune evasion. Immunology. 2003;110(2):163-169.
Bjorkman PJ, Saper MA, Samraoui B, Bennett WS, Strominger JL, Wiley DC. The foreign antigen binding site and T cell recognition regions of class I histocompatibility antigens. Nature. 1987;329(6139):512-518.
Robinson J, Halliwell JA, Hayhurst JH, Flicek P, Parham P, Marsh SGE. The IPD and IMGT/HLA database: allele variant databases. Nucleic Acids Res. 2015;43:D423-D431.
Smith AG, Fan W, Regen L, et al. Somatic mutations in the HLA genes of patients with hematological malignancy. Tissue Antigens. 2012;79(5):359-366.
Mrazek F, Onderkova J, Szotkowski T, Königova N, Ambruzova Z, Raida L. Somatic mutation in acute myelogenous leukemia cells imitate novel germline HLA-A allele: a case report. Tissue Antigens. 2014;83(6):414-417.
Kumar P, Vahedi-Faridi A, Saenger W, et al. Structural basis for T cell alloreactivity among three HLA-B14 and HLA-B27 antigens. J Biol Chem. 2009;284(43):29784-29797.
Guex N, Peitsch MC. SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis. 1997;18(15):2714-2723.
Guex N, Peitsch MC, Schwede T. Automated comparative protein structure modeling with SWISS-MODEL and Swiss-PdbViewer: a historical perspective. Electrophoresis. 2009;30(1):162-173.
Grantham R. Amino acid difference formula to help explain protein evolution. Science. 1974;185(4154):862-864.
Warburton RJ, Matsui M, Rowland-Jones SL, et al. Mutation of the α2 domain disulfide bridge of the class I molecule HLA-A*0201 effect on maturation and peptide presentation. Hum Immunol. 1994;39(4):261-271.
Middleton D, Meenagh A, Marsh SGE, Martin J. A HLA-Cw*03 allele, Cw*0322Q with limited or no expression. Tissue Antigens. 2006;67:343-345.
Marsh SGE. Nomenclature for factors of the HLA system, update February 2005. Tissue Antigens. 2005;65:586-587.
Zeiser R, Vago L. Mechanisms of immune escape after allogeneic hematopoietic cell transplantation. Blood. 2019;133(12):1290-1297.
