Human leucocyte antigen (HLA) modifications observed in blast cells in haematologic malignancies can play an important role in disease progression and its therapy. Here we describe an insertion/deletion mutation in the second exon of HLA-B*39:01 that occurred in the blast cells of a patient with B-ALL. This mutation was not present in the nonleukemic cells, in which HLA-B*39:01 was normally expressed.

Czech National Marrow Donors Registry HLA Laboratory Pilsen Czech Republic Department of Haematology and Oncology University Hospital Pilsen Czech Republic

000      

00000naa a2200000 a 4500

001      

bmc12028368

003      

CZ-PrNML

005      

20121207110212.0

007      

ta

008      

120817e20110411enk f 000 0#eng||

009      

AR

024    7_

$a 10.1111/j.1744-313x.2011.01007.x $2 doi

035    __

$a (PubMed)21481192

040    __

$a ABA008 $b cze $d ABA008 $e AACR2

041    0_

$a eng

044    __

$a enk

100    1_

$a Venigová, P $u Czech National Marrow Donors Registry, HLA Laboratory, Pilsen, Czech Republic Department of Haematology and Oncology, University Hospital Pilsen, Czech Republic. venigova@kostnidren.cz

245    10

$a Detection of A B acute lymphoblastic leukaemia blast-specific mutation in HLA-B*39:01 / $c P. Venigová, P. Jindra, V. Koza,

520    9_

$a Human leucocyte antigen (HLA) modifications observed in blast cells in haematologic malignancies can play an important role in disease progression and its therapy. Here we describe an insertion/deletion mutation in the second exon of HLA-B*39:01 that occurred in the blast cells of a patient with B-ALL. This mutation was not present in the nonleukemic cells, in which HLA-B*39:01 was normally expressed.

650    _2

$a krevní buňky $x patologie $7 D001773

650    _2

$a exony $7 D005091

650    _2

$a ženské pohlaví $7 D005260

650    _2

$a HLA-B antigeny $x genetika $7 D015235

650    _2

$a lidé $7 D006801

650    _2

$a lidé středního věku $7 D008875

650    _2

$a mutace $x genetika $7 D009154

650    _2

$a pre-B-buněčná leukemie $x genetika $x patologie $7 D015452

655    _2

$a kazuistiky $7 D002363

655    _2

$a časopisecké články $7 D016428

700    1_

$a Jindra, P

700    1_

$a Koza, V

773    0_

$w MED00008484 $t International journal of immunogenetics $x 1744-313X $g Roč. 38, č. 4 (20110411), s. 285-6

856    41

$u https://pubmed.ncbi.nlm.nih.gov/21481192 $y Pubmed

910    __

$a ABA008 $b sig $c sign $y m

990    __

$a 20120817 $b ABA008

991    __

$a 20121207110247 $b ABA008

999    __

$a ok $b bmc $g 950410 $s 785714

BAS    __

$a 3

BAS    __

$a PreBMC

BMC    __

$a 2011 $b 38 $c 4 $d 285-6 $e 20110411 $i 1744-313X $m International journal of immunogenetics $n Int J Immunogen $x MED00008484

LZP    __

$a Pubmed-20120817/11/04