Godon C, Talmant P, Garand R, Accart F, Bataille R, Avet-Loiseau H
Laboratoire d'Hématologie, Centre Hospitalier Universitaire, Nantes, France.
Genes Chromosomes Cancer. 2000 Dec;29(4):350-2. doi: 10.1002/1098-2264(2000)9999:9999<::aid-gcc1041>3.0.co;2-w.
One of the most common structural rearrangements in myelodysplastic syndrome (MDS) is a deletion of the long arm of chromosome 5, del(5q). The 5q- syndrome is a distinct entity, that presents with specific morphologic abnormalities of the megakaryocytic lineage. Thus, we evaluated the presence or absence of the del(5q) in these cells. We performed fluorescence in situ hybridization analysis using unique sequence probes (one for 5q31, the other for the 5p telomeric band), and tested bone marrow specimens from 10 patients with MDS (including 6 patients with the 5q- syndrome) and a del(5q). Megakaryocytes were identified by nuclear morphology, size, and ploidy index. Our results demonstrate the presence of the del(5q) in the megakaryocytic lineage and, thus, the involvement of these cells in the disease process.
骨髓增生异常综合征（MDS）最常见的结构重排之一是5号染色体长臂缺失，即del(5q)。5q-综合征是一种独特的病症，其特征为巨核细胞系存在特定的形态学异常。因此，我们评估了这些细胞中del(5q)的有无。我们使用独特序列探针（一个针对5q31，另一个针对5p端粒带）进行荧光原位杂交分析，并检测了10例MDS患者（包括6例5q-综合征患者）且伴有del(5q)的骨髓标本。通过核形态、大小和倍性指数来识别巨核细胞。我们的结果证明了巨核细胞系中存在del(5q)，从而表明这些细胞参与了疾病进程。
