Somatic mutation of HLA-DRB1*04:03 in a patient with myelodysplastic syndrome at diagnosis

Sholhui Park; Tae D Jeong; Yeung C Mun; Dongchun Seo; Jisu Im; Jungwon Huh

doi:10.1111/tan.13490

Somatic mutation of HLA-DRB1*04:03 in a patient with myelodysplastic syndrome at diagnosis

HLA. 2019 Apr;93(4):216-219. doi: 10.1111/tan.13490. Epub 2019 Mar 13.

Authors

Sholhui Park¹, Tae D Jeong¹, Yeung C Mun², Dongchun Seo¹, Jisu Im³, Jungwon Huh¹

Affiliations

¹ Department of Laboratory Medicine, Ewha Womans University, College of Medicine, Seoul, South Korea.
² Department of Internal Medicine, Ewha Womans University, College of Medicine, Seoul, South Korea.
³ Research and Development Team, Biowithus Life Science Institute, Seoul, South Korea.

PMID: 30773841
DOI: 10.1111/tan.13490

Abstract

Loss or decrease in expression of human HLA caused by somatic mutations of HLA genes has been reported in various malignancies. However, mutations in the HLA-DR gene have been rarely noted in hematologic malignancies. Here, we report a case of myelodysplastic syndrome (MDS) with a novel point mutation in exon 2 of the HLA-DRB1*04:03 gene pertaining to a silent mutation (c.357A > T[p.Thr=]). When compared before and after anticancer drug treatment and to the results from the full HLA-matching sibling donor, mutation of the HLA-DRB1 gene suggests clonal evolution. In conclusion, we report a new DRB1*04:03 mutation in an MDS patient at diagnosis that results in a synonymous substitution with unknown clinical impact.

Keywords: HLA-DR gene; mutation; myelodysplastic syndrome.

Publication types

Case Reports

MeSH terms

Exons*
HLA-DRB1 Chains / genetics*
Humans
Male
Middle Aged
Myelodysplastic Syndromes / drug therapy
Myelodysplastic Syndromes / genetics*
Myelodysplastic Syndromes / pathology
Point Mutation*

Substances

HLA-DRB1 Chains
HLA-DRB1*04:03 antigen