Hirasawa Nobuhiro, Sakata-Yanagimoto Mamiko, Nannya Yasuhito, Hattori Keiichiro, Suehara Yasuhito, Kato Takayasu, Yokoyama Yasuhisa, Kurita Naoki, Obara Naoshi, Ogawa Seishi, Hasegawa Yuichi, Chiba Shigeru
School of Medicine, University of Tsukuba.
Department of Hematology, University of Tsukuba Hospital.
Rinsho Ketsueki. 2018;59(1):80-83. doi: 10.11406/rinketsu.59.80.
Recent progress in sequencing studies has suggested that somatic mutations can be used in clinical sequencing for predicting prognosis and selecting treatment options in myelodysplastic syndrome (MDS). A 48-year-old man was diagnosed with refractory cytopenia with multilineage dysplasia that is classified as a subtype of high-risk MDS based on both revised International Prognostic Scoring System and refined WHO classification based Prognostic Scoring System. He received a bone marrow transplant from an HLA-matched sibling donor at X＋87 months because of disease progression. Targeted sequencing of 69 genes in bone marrow cells at X＋82 months revealed mutations in BCOR and U2AF1 genes. Variant allele frequencies of these mutations were almost unchanged in the bone marrow examined from X＋9 months to X＋80 months, but they subsequently decreased. Neither of these mutations was detected in the bone marrow at X＋88 months, a month after transplantation. The mutations often found in secondary leukemia or high-risk MDS were not detected in our patient. These serial genetic conditions may correspond to the relatively stable disease course over a long time.
测序研究的最新进展表明，体细胞突变可用于临床测序，以预测骨髓增生异常综合征（MDS）的预后并选择治疗方案。一名48岁男性被诊断为多系发育异常的难治性血细胞减少症，根据修订的国际预后评分系统和基于世界卫生组织分类的改良预后评分系统，该疾病被归类为高危MDS的一种亚型。由于疾病进展，他在X＋87个月时接受了来自HLA匹配同胞供体的骨髓移植。在X＋82个月时对骨髓细胞中的69个基因进行靶向测序，发现BCOR和U2AF1基因存在突变。从X＋9个月到X＋80个月检测的骨髓中，这些突变的变异等位基因频率几乎没有变化，但随后有所下降。移植后一个月，即X＋88个月时，在骨髓中未检测到这些突变中的任何一个。在我们的患者中未检测到在继发性白血病或高危MDS中经常发现的突变。这些连续的基因状况可能与长期相对稳定的病程相对应。
