骨髓增生异常综合征异常克隆分布及与外周血细胞变化的关系

目的探讨不同染色体异常的骨髓增生异常综合征（MDS）患者异常克隆在骨髓各细胞系列中的分布及其与外周血细胞变化的关系。方法对del（20q）,8号染色体三体和含有5q-复杂核型的MDS患者和核型正常者的骨髓涂片进行Wright-Giemsa染色,并行荧光原位杂交检测,统计其红系、粒系、淋巴系细胞的荧光信号后与临床指标相比较。结果异常克隆在MDS患者红系中的比例分别为92.4%、56.4%、57.6%、63.2%、60.2%;粒系中的比例分别为71.2%、68.1%、72.4%、44.4%和49.3%,均高于对照组;异常克隆在淋巴系中的比例除在病例2三体8的患者中高于对照组,其余均低于对照组。异常克隆分布在红系和粒系的患者,外周血细胞水平可表现为正常或降低（Hb48～132g/L,ANC0.38×109/L～2.60×109/L）。病例2三体8的患者外周血淋巴细胞比例较高。结论 MDS异常克隆主要分布于骨髓粒系和红系细胞,个别患者分布于淋巴细胞。异常克隆在骨髓细胞系列中的分布与外周血细胞变化无明显相关性。

Relationship between the clonality of bone marrow lineages and peripheral blood cell from the patients with myelodysplastic syndrome

Objective To investigate the distribution of abnormal clone with cytogenetic abnormalities and to study the relationship between the clonality of BM lineages and the clinical materials from the patients with MDS.Methods Morphology by BM smears recognizing myeloid precursors,erythroid precursors and lymphocytes were used to sort bone marrow cells in MDS patients with del(20q),trisomy 8 and complex karyotype including del(5)(q12q34).The sorted positive cells were detected by interphase FISH using corresponding probes.The methods were also performed on the samples from 4 cases with normal karyotype.Results The percentage of MDS clone in the erythroid precursors were 92.4%,56.4%,57.6%,63.2% and 60.2%,respectively;The corresponding value in myeloid precursors was 71.2%,68.1%,72.4%,44.4% and 49.3%,respectively.They were all above the cut-off value.The number of abnormal cells of lymphocytes was below the cut-off value in lymphocytes contained trisomy 8 in patients 2.Although MDS clones were selectively expressed in the myeloid and erythroid precursors,the patients presented with normality or pancytopenia:haemoglobin from 48 g/L to 132 g/L,ANC from 0.38×109/L to 2.60×109/L.The percentage of lymphocytes in patient 2 was higher than two others.Conclusion The aberrant clones are selectively expressed in the myeloid-derived cells,whereas lymphocytes are rarely derived from them.The clonality of bone marrow cell lineages has nothing to do with the peripheral blood count.