Department of Laboratory Medicine, Ewha Womans University, College of Medicine, Seoul, South Korea.
Department of Internal Medicine, Ewha Womans University, College of Medicine, Seoul, South Korea.
HLA. 2019 Apr;93(4):216-219. doi: 10.1111/tan.13490. Epub 2019 Mar 13.
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-DRB104:03 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 DRB104:03 mutation in an MDS patient at diagnosis that results in a synonymous substitution with unknown clinical impact.
已在各种恶性肿瘤中报道了 HLA 基因的体细胞突变导致人类 HLA 表达的缺失或减少。然而，在血液系统恶性肿瘤中 HLA-DR 基因的突变很少被注意到。在这里，我们报告了一例骨髓增生异常综合征（MDS），其 HLA-DRB104:03 基因外显子 2 存在新的点突变，属于沉默突变（c.357A>T[p.Thr=]）。与抗癌药物治疗前后的结果以及与完全 HLA 匹配的同胞供体的结果进行比较，HLA-DRB1 基因突变提示克隆进化。总之，我们在诊断时报告了一例 MDS 患者的新 DRB104:03 突变，导致同义取代，其临床影响未知。
