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Somatic mutation in the HLA‐B gene of a patient with acute myelogenous leukaemia
Author(s) -
Planelles D.,
Balas A.,
Gil C.,
Muñoz C.,
RodríguezCebriá M.,
Vicario J. L.
Publication year - 2016
Publication title -
hla
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.347
H-Index - 99
eISSN - 2059-2310
pISSN - 2059-2302
DOI - 10.1111/tan.12830
Subject(s) - human leukocyte antigen , typing , mutation , exon , somatic cell , gene , stop codon , biology , frameshift mutation , genetics , medicine , antigen
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.