Somatic mutation of HLA-DRB1*04:03 in a patient with myelodysplastic syndrome at diagnosis
- 주제(키워드) HLA-DR gene , mutation , myelodysplastic syndrome
- 주제(기타) Cell Biology; Immunology; Pathology
- 설명문(일반) [Park, Sholhui; Jeong, Tae D.; Seo, Dongchun; Huh, Jungwon] Ewha Womans Univ, Coll Med, Dept Lab Med, 1071 Anyangcheon Ro, Seoul 07985, South Korea; [Mun, Yeung C.] Ewha Womans Univ, Coll Med, Dept Internal Med, Seoul, South Korea; [Im, Jisu] Biowithus Life Sci Inst, Res & Dev Team, Seoul, South Korea
- 등재 SCIE, SCOPUS
- 발행기관 WILEY
- 발행년도 2019
- URI http://www.dcollection.net/handler/ewha/000000159852
- 본문언어 영어
- Published As http://dx.doi.org/10.1111/tan.13490
- PubMed https://pubmed.ncbi.nlm.nih.gov/30773841
초록/요약
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-DRBI*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-DRB 1 gene suggests clonal evolution. In conclusion, we report a new DRBI*04:03 mutation in an MDS patient at diagnosis that results in a synonymous substitution with unknown clinical impact.
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