Somatic mutation in the HLA‐B gene of a patient with acute myelogenous leukaemia. (14th June 2016)

• Record Type: Journal Article
• Authors: Planelles, D.; Balas, A.; Gil, C.; Muñoz, C.; Rodríguez‐Cebriá, M.; Vicario, J. L.
• Is Part Of: HLA. Volume 88:Number 1/2(2016)
• Page Start: 35
• Page End: 37
• Publication Date: 2016-06-14
• Subjects: somatic mutation -- HLA‐B -- haematological malignancy; Immunogenetics -- Periodicals; Antigens -- Periodicals; HLA histocompatibility antigens -- Periodicals; 571.9645
• DOI: 10.1111/tan.12830
• Languages: English
• ISSNs: 2059-2302

Abstract

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.