HLA-B gene somatic insertion/deletion mutations in patients with acute myelogenous leukaemia

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61988987%3A17110%2F18%3AA1901YUZ" target="_blank" >RIV/61988987:17110/18:A1901YUZ - isvavai.cz</a>

Alternative codes found

RIV/00098892:_____/18:N0000131 RIV/00843989:_____/18:E0107330

Result on the web

<a href="http://dx.doi.org/10.1111/iji.12393" target="_blank" >http://dx.doi.org/10.1111/iji.12393</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1111/iji.12393" target="_blank" >10.1111/iji.12393</a>

Result language

angličtina

Original language name

HLA-B gene somatic insertion/deletion mutations in patients with acute myelogenous leukaemia

Original language description

Loss of heterozygosity is considered to be the most common type of tumour-specific somatic mutation of the human leucocyte antigens (HLA) genes in patients with haematological malignancies. Nevertheless, subtle DNA sequence changes, namely short insertions/deletions, may also abolish the expression of HLA molecules and interfere with routine HLA typing. Two male patients with acute myelogenous leukaemia (AML) were indicated for the search of a suitable donor for allogeneic haematopoietic stem cell transplantation (aHSCT). The patients and their relatives were initially HLA typed by serological and DNA techniques at a low-resolution level. The HLA high-resolution (HR) type was obtained by means of sequencing-based typing (SBT). In both cases, anomalous frameshifts in the sequence were observed in the HLA-B gene, namely in exon 3 (Case 1, heterozygous deletion of two bases) and exon 4 (Case 2, heterozygous insertion of two bases). In the second case, the insertion variant was associated with a loss of HLA-B8 expression. To reveal whether these sequence patterns may be caused by somatic mutations in the malignant cells, blood sample in remission (Case 1) and buccal swab sample (Case 2) were collected from the patients. In an important manner, the SBT in these germline samples revealed common HLA-B*07:02,*15:01 (Case 1) and HLA-B*08:01,*35:02 (Case 2) types with no evidence for the sequence alteration observed in the initial samples. In conclusion, the insertion/deletion sequence variants of the HLA-B gene in two patients were limited to the initial blood samples with a substantial proportion of AML cells and thus may be attributed to the somatic mutation in the malignant cells. HLA somatic mutations should be taken into account in patients with haematological malignancies to prevent HLA mistyping and inappropriate selection of an aHSCT donor.

Czech name

—

Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30205 - Hematology

Project

—

Continuities

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

International Journal of Immunogenetics

ISSN

1744-3121

e-ISSN

1744-313X

Volume of the periodical

6

Issue of the periodical within the volume

45

Country of publishing house

US - UNITED STATES

Number of pages

6

Pages from-to

323-328

UT code for WoS article

000450019800001

EID of the result in the Scopus database

2-s2.0-85051008098