PMID- 24758284
OWN - NLM
STAT- MEDLINE
DCOM- 20150105
LR  - 20140515
IS  - 1399-0039 (Electronic)
IS  - 0001-2815 (Linking)
VI  - 83
IP  - 6
DP  - 2014 Jun
TI  - Somatic mutation in acute myelogenous leukemia cells imitate novel germline HLA-A 
      allele: a case report.
PG  - 414-7
LID - 10.1111/tan.12362 [doi]
AB  - 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.
CI  - (c) 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
FAU - Mrazek, F
AU  - Mrazek F
AD  - 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.
FAU - Onderkova, J
AU  - Onderkova J
FAU - Szotkowski, T
AU  - Szotkowski T
FAU - Konigova, N
AU  - Konigova N
FAU - Ambruzova, Z
AU  - Ambruzova Z
FAU - Raida, L
AU  - Raida L
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140423
PL  - England
TA  - Tissue Antigens
JT  - Tissue antigens
JID - 0331072
RN  - 0 (HLA-A*02:01 antigen)
RN  - 0 (HLA-A2 Antigen)
SB  - IM
MH  - Adult
MH  - Alleles
MH  - Amino Acid Substitution
MH  - Base Sequence
MH  - Exons/genetics
MH  - Female
MH  - Germ-Line Mutation
MH  - HLA-A2 Antigen/*genetics
MH  - Hematopoietic Stem Cell Transplantation
MH  - Histocompatibility Testing
MH  - Humans
MH  - Leukemia, Myeloid, Acute/*genetics/pathology/therapy
MH  - Molecular Sequence Data
MH  - *Mutation, Missense
MH  - Neoplastic Stem Cells/*chemistry
MH  - *Point Mutation
MH  - Remission Induction
MH  - Siblings
OTO - NOTNLM
OT  - human leukocyte antigen typing
OT  - major histocompatibility complex
OT  - new HLA allele
OT  - polymorphism
OT  - somatic mutation
EDAT- 2014/04/25 06:00
MHDA- 2015/01/06 06:00
CRDT- 2014/04/25 06:00
PHST- 2013/12/06 00:00 [received]
PHST- 2014/03/07 00:00 [revised]
PHST- 2014/03/25 00:00 [accepted]
PHST- 2014/04/25 06:00 [entrez]
PHST- 2014/04/25 06:00 [pubmed]
PHST- 2015/01/06 06:00 [medline]
AID - 10.1111/tan.12362 [doi]
PST - ppublish
SO  - Tissue Antigens. 2014 Jun;83(6):414-7. doi: 10.1111/tan.12362. Epub 2014 Apr 23.