Somatic mutation in the HLA-B gene of a patient with acute myelogenous leukaemia.
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.
Histocompatibilidad, Centro de Transfusión de la Comunidad Valenciana, Valencia, Spain.
D
D
Planelles
Histocompatibilidad, Centro de Transfusión de la Comunidad de Madrid, Madrid, Spain.
A
A
Balas
Hematología, Hospital General Universitario de Alicante, Alicante, Spain.
C
C
Gil
Inmunología, Hospital General Universitario de Alicante, Alicante, Spain.
C
C
Muñoz
Histocompatibilidad, Centro de Transfusión de la Comunidad Valenciana, Valencia, Spain.
M
M
Rodríguez-Cebriá
Histocompatibilidad, Centro de Transfusión de la Comunidad de Madrid, Madrid, Spain.
J L
JL
Vicario
D000483:Alleles; D001483:Base Sequence; D018389:Codon, Nonsense; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D015870:Gene Expression; D005838:Genotype; D059910:HLA-B15 Antigen / Q000235:genetics* / Q000276:immunology; D006650:Histocompatibility Testing; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D008875:Middle Aged; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
D018389:Codon, Nonsense; D059910:HLA-B15 Antigen
HLA-B; haematological malignancy; somatic mutation