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Somatic mutation in acute myelogenous leukemia cells imitate novel germline HLA-A allele: a case report

F. Mrazek, J. Onderkova, T. Szotkowski, N. Königova, Z. Ambruzova, L. Raida,

. 2014 ; 83 (6) : 414-417.

Language English Country England, Great Britain

Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't

Persistent link   https://www.medvik.cz/link/bmc15014366

Grant support
NT12454 MZ0 CEP Register

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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