Novak A, Jankovic G, Rolovic Z
Cytogenetics Laboratory, University Clinical Center, Belgrade, Yugoslavia.
Cancer Genet Cytogenet. 1992 Aug;62(1):100-2. doi: 10.1016/0165-4608(92)90049-e.
We report a patient with primary myelodysplastic syndrome (MDS) and two coexisting karyotypically independent clones. Cytogenetic investigation of bone marrow (BM) cells at diagnosis showed, besides the cells with normal karyotype, a clone that manifests an interstitial deletion of the long arm of chromosome 5 and a second one with a t(5;17). The rarity of finding a BM mosaicism in myelodysplasia with 5q- in some cells and different chromosomal abnormalities in others may be considered to support the multistep theory of pathogenesis in MDS.
我们报告了一名患有原发性骨髓增生异常综合征（MDS）且存在两个共存的核型独立克隆的患者。诊断时对骨髓（BM）细胞进行的细胞遗传学研究显示，除了具有正常核型的细胞外，一个克隆表现为5号染色体长臂的间质缺失，另一个克隆表现为t(5;17)。在骨髓发育异常中发现骨髓镶嵌现象，即一些细胞存在5q-，而另一些细胞存在不同的染色体异常，这种情况较为罕见，可能支持MDS发病机制的多步骤理论。
