Somatic mutation in the HLA-B gene of a patient with acute myelogenous leukaemia

HLA. 2016 Jul;88(1-2):35-7. doi: 10.1111/tan.12830. Epub 2016 Jun 14.

Abstract

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.

Keywords: HLA-B; haematological malignancy; somatic mutation.

Publication types

  • Case Reports

MeSH terms

  • Alleles*
  • Base Sequence
  • Codon, Nonsense
  • Exons*
  • Female
  • Frameshift Mutation*
  • Gene Expression
  • Genotype
  • HLA-B15 Antigen / genetics*
  • HLA-B15 Antigen / immunology
  • Histocompatibility Testing
  • Humans
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / immunology
  • Leukemia, Myeloid, Acute / pathology
  • Middle Aged
  • Sequence Alignment
  • Sequence Analysis, DNA

Substances

  • Codon, Nonsense
  • HLA-B15 Antigen