Okuda Rurika
Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University.
Rinsho Ketsueki. 2023;64(12):1519-1522. doi: 10.11406/rinketsu.64.1519.
der(1;7)(q10;p10) is a derivative chromosome generated by an unbalanced translocation between chromosomes 1 and 7 during DNA replication. It was first described in 1980, over 40 years ago, in a case report of three patients with myelofibrosis and myeloid metaplasia. This unbalanced translocation has been identified as a characteristic entity within myeloid neoplasms. Recent clinical and genetic studies comparing der(1;7)(q10;p10)(+) against -7/del(7q) have revealed that patients with der(1;7)(q10;p10)(+) MDS have a better prognosis and a unique mutational profile. This review discusses the clinical and genetic features of der(1;7)(q10;p10)(+) myeloid neoplasms.
der(1;7)(q10;p10)是在DNA复制过程中由1号和7号染色体之间的不平衡易位产生的衍生染色体。它于40多年前的1980年首次在一篇关于三名骨髓纤维化和髓样化生患者的病例报告中被描述。这种不平衡易位已被确定为髓系肿瘤中的一种特征性实体。最近比较der(1;7)(q10;p10)(+)与-7/del(7q)的临床和遗传学研究表明,der(1;7)(q10;p10)(+)骨髓增生异常综合征患者预后较好且具有独特的突变谱。本综述讨论了der(1;7)(q10;p10)(+)髓系肿瘤的临床和遗传学特征。