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

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About: Somatic mutation in acute myelogenous leukemia cells imitate novel germline HLA-A allele: a case report Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://onlinelibrary.wiley.com/doi/10.1111/tan.12362/abstract
Description	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-A02:01 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. 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-A02:01 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. (en)
Title	Somatic mutation in acute myelogenous leukemia cells imitate novel germline HLA-A allele: a case report Somatic mutation in acute myelogenous leukemia cells imitate novel germline HLA-A allele: a case report (en)
skos:prefLabel	Somatic mutation in acute myelogenous leukemia cells imitate novel germline HLA-A allele: a case report Somatic mutation in acute myelogenous leukemia cells imitate novel germline HLA-A allele: a case report (en)
skos:notation	RIV/61989592:15110/14:33151990!RIV15-MSM-15110___
http://linked.open...avai/riv/aktivita	P S
http://linked.open...avai/riv/aktivity	P(ED0030/01/01), S
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2015
http://linked.open...aciTvurceVysledku	Raida, Luděk Mrázek, František Szotkowski, Tomáš Onderková, Jana Ambrůzová, Zuzana
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Palackého v Olomouci / Lékařská fakulta
http://linked.open...dnocenehoVysledku	45946
http://linked.open...ai/riv/idVysledku	RIV/61989592:15110/14:33151990
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	somatic mutation; polymorphism; new HLA allele; major histocompatibility complex; human leukocyte antigen typing (en)
http://linked.open.../riv/klicoveSlovo	somatic mutation major histocompatibility complex polymorphism human leukocyte antigen typing new HLA allele
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[36465FF1FD18]
http://linked.open...i/riv/nazevZdroje	Tissue Antigens
http://linked.open...in/vavai/riv/obor	EC
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...vavai/riv/projekt	Biomedicine for regional development and human resources
http://linked.open...UplatneniVysledku	2014
http://linked.open...v/svazekPeriodika	83
http://linked.open...iv/tvurceVysledku	Mrázek, František Raida, Luděk Szotkowski, Tomáš Ambrůzová, Zuzana Onderková, Jana Königova, Nikola
http://linked.open...ain/vavai/riv/wos	000335836100007
issn	0001-2815
number of pages	4 (xsd:int)
http://bibframe.org/vocab/doi	10.1111/tan.12362
http://localhost/t...ganizacniJednotka	15110

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