Detail
Článek
Článek online
FT
Medvik - BMČ
  • Je něco špatně v tomto záznamu ?

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.

Jazyk angličtina Země Anglie, Velká Británie

Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc15014366

Grantová podpora
NT12454 MZ0 CEP - Centrální evidence projektů

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.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc15014366
003      
CZ-PrNML
005      
20190702130652.0
007      
ta
008      
150420s2014 enk f 000 0|eng||
009      
AR
024    7_
$a 10.1111/tan.12362 $2 doi
035    __
$a (PubMed)24758284
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a enk
100    1_
$a Mrázek, František, $u HLA laboratory, Department of Immunology, University Hospital and Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic; Institute of Molecular and Translational Medicine, University Hospital and Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic. $d 1973- $7 xx0051697
245    10
$a Somatic mutation in acute myelogenous leukemia cells imitate novel germline HLA-A allele: a case report / $c F. Mrazek, J. Onderkova, T. Szotkowski, N. Königova, Z. Ambruzova, L. Raida,
520    9_
$a 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.
650    _2
$a dospělí $7 D000328
650    _2
$a alely $7 D000483
650    _2
$a substituce aminokyselin $7 D019943
650    _2
$a sekvence nukleotidů $7 D001483
650    _2
$a exony $x genetika $7 D005091
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a zárodečné mutace $7 D018095
650    _2
$a HLA-A2 antigen $x genetika $7 D015789
650    _2
$a transplantace hematopoetických kmenových buněk $7 D018380
650    _2
$a testování histokompatibility $7 D006650
650    _2
$a lidé $7 D006801
650    _2
$a akutní myeloidní leukemie $x genetika $x patologie $x terapie $7 D015470
650    _2
$a molekulární sekvence - údaje $7 D008969
650    12
$a missense mutace $7 D020125
650    _2
$a nádorové kmenové buňky $x chemie $7 D014411
650    12
$a bodová mutace $7 D017354
650    _2
$a indukce remise $7 D012074
650    _2
$a sourozenci $7 D035781
655    _2
$a kazuistiky $7 D002363
655    _2
$a časopisecké články $7 D016428
655    _2
$a práce podpořená grantem $7 D013485
700    1_
$a Onderková, Jana $7 xx0159689
700    1_
$a Szotkowski, Tomáš $7 xx0060568
700    1_
$a Königova, N
700    1_
$a Ambruzova, Z $7 gn_A_00005477
700    1_
$a Raida, Luděk, $d 1968- $7 xx0034365
773    0_
$w MED00004523 $t Tissue antigens $x 1399-0039 $g Roč. 83, č. 6 (2014), s. 414-417
856    41
$u https://pubmed.ncbi.nlm.nih.gov/24758284 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20150420 $b ABA008
991    __
$a 20190702130840 $b ABA008
999    __
$a ok $b bmc $g 1071947 $s 897244
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2014 $b 83 $c 6 $d 414-417 $i 1399-0039 $m Tissue antigens $n Tissue Antigens $x MED00004523
GRA    __
$a NT12454 $p MZ0
LZP    __
$a Pubmed-20150420

Najít záznam

Citační ukazatele

Možnosti archivace