PMID- 27297335
OWN - NLM
STAT- MEDLINE
DCOM- 20180116
LR  - 20180127
IS  - 2059-2310 (Electronic)
IS  - 2059-2302 (Linking)
VI  - 88
IP  - 1-2
DP  - 2016 Jul
TI  - Somatic mutation in the HLA-B gene of a patient with acute myelogenous leukaemia.
PG  - 35-7
LID - 10.1111/tan.12830 [doi]
AB  - In this report we describe a case of somatic mutation in the HLA-B gene in the 
      tumour cells of a patient with acute myelogenous leukaemia (AML). Routine human 
      leukocyte antigen (HLA) typing of patient by serology and molecular methodologies 
      rendered discrepant results regarding the expression of a B*15:01 antigen. 
      Sequencing-based typing of a patient's sample including a very high percentage of 
      blast cells revealed the presence of one nucleotide insertion at exon 3, position 
      440, codon 123. This insertion resulted in a reading frame shift and a premature 
      stop codon at position 152. The mutation was absent in a sample obtained when the 
      patient was in remission. This case report points out the relevance of the sample 
      source for HLA typing in patients with haematological malignancies.
CI  - (c) 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
FAU - Planelles, D
AU  - Planelles D
AD  - Histocompatibilidad, Centro de Transfusion de la Comunidad Valenciana, Valencia, 
      Spain.
FAU - Balas, A
AU  - Balas A
AD  - Histocompatibilidad, Centro de Transfusion de la Comunidad de Madrid, Madrid, 
      Spain.
FAU - Gil, C
AU  - Gil C
AD  - Hematologia, Hospital General Universitario de Alicante, Alicante, Spain.
FAU - Munoz, C
AU  - Munoz C
AD  - Inmunologia, Hospital General Universitario de Alicante, Alicante, Spain.
FAU - Rodriguez-Cebria, M
AU  - Rodriguez-Cebria M
AD  - Histocompatibilidad, Centro de Transfusion de la Comunidad Valenciana, Valencia, 
      Spain.
FAU - Vicario, J L
AU  - Vicario JL
AD  - Histocompatibilidad, Centro de Transfusion de la Comunidad de Madrid, Madrid, 
      Spain.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20160614
PL  - England
TA  - HLA
JT  - HLA
JID - 101675570
RN  - 0 (Codon, Nonsense)
RN  - 0 (HLA-B15 Antigen)
SB  - IM
MH  - *Alleles
MH  - Base Sequence
MH  - Codon, Nonsense
MH  - *Exons
MH  - Female
MH  - *Frameshift Mutation
MH  - Gene Expression
MH  - Genotype
MH  - HLA-B15 Antigen/*genetics/immunology
MH  - Histocompatibility Testing
MH  - Humans
MH  - Leukemia, Myeloid, Acute/*genetics/immunology/pathology
MH  - Middle Aged
MH  - Sequence Alignment
MH  - Sequence Analysis, DNA
OTO - NOTNLM
OT  - HLA-B
OT  - haematological malignancy
OT  - somatic mutation
EDAT- 2016/06/15 06:00
MHDA- 2018/01/18 06:00
CRDT- 2016/06/15 06:00
PHST- 2016/04/12 00:00 [received]
PHST- 2016/05/25 00:00 [revised]
PHST- 2016/05/27 00:00 [accepted]
PHST- 2016/06/15 06:00 [entrez]
PHST- 2016/06/15 06:00 [pubmed]
PHST- 2018/01/18 06:00 [medline]
AID - 10.1111/tan.12830 [doi]
PST - ppublish
SO  - HLA. 2016 Jul;88(1-2):35-7. doi: 10.1111/tan.12830. Epub 2016 Jun 14.