含有5q-复杂核型的骨髓病态及非病态造血细胞的克隆来源

目的：探讨骨髓增生异常综合征（MDS）患者含有的5q-复杂核型骨髓病态及非病态造血细胞的克隆来源。方法：对1例含有5q-复杂核型的MDS患者及4例核型正常的缺铁性贫血者（对照组）的骨髓细胞涂片进行Wright-Giemsa染色,并行间期双色荧光原位杂交（FISH）,统计其病态和非病态造血细胞的荧光信号。结果：MDS患者病态造血细胞中来源于异常克隆者占85.9%,在非病态造血细胞中源于异常克隆者占35.1%,两者间差异有统计学意义（P〈0.001）。在MDS非病态造血细胞中,在原始红、早幼红、中幼红和晚幼红细胞中来源于异常克隆的比例依次为71.4%、53.3%、26.3%和11.8%;在早幼粒、中幼粒、晚幼粒和杆状分叶核粒细胞中的比例依次为66.7%、46.2%、33.3%和15.8%。异常克隆在非病态造血细胞由幼稚至成熟各阶段中的比例呈下降趋势,差异有统计学意义（P〈0.01）。结论：MDS病态造血细胞中来源于异常克隆的比例显著高于非病态造血细胞。在红系、粒系非病态细胞中,随着细胞分化成熟,异常克隆细胞的比例降低,提示异常克隆细胞成熟分化受阻。

Clone origin of dysplastic and non-dysplastic bone marrow hematopoitic cells in myeloid dysplasia patient with 5q-complex karyotype

Objective To investigate the clone origin of dysplastic and non-dysplastic bone marrow hematopoitic cells in myeloid dysplasia syndrome patient with 5q- complex karyotype. Methods The bone marrow smears of a patient with myeloid dysplasia syndrome and of 4 patients with normal haryotype iron deficient anemia were stained with Wright- Geimsa stain, interphase dual color fluorescent in situ hybridization （FISH） was performed and the tluorescent signals of dysplasia and non-dysplasia hemopoietic cells were counted directly. Results In the patient with myeloid dysplasia syndrome, 85.9% of the dysplastic hematopoitic cells and 35.1% of non-dysplastic hematopoitic cells had their origin from aberrant clone, the difference was statistically significant （P〈0.001）. In non-dysplastic hematopoitic cells, the percentages of cells originated from aberrant clone in proerythroblasts, basophilic, polychromatic and orthochromatic erythroblasts were 71.4%, 53.3%, 33.3% and 15.8%, respectively, and the percentages in promyelocytes, myelocytes, metamyelocytes, band and segmented granulocytes were 66.7% ,46.2% ,33.3% and 15.8%, respectively. There was a tendency of percentage decreasing from immature to mature stages and the difference was statistically significant （P〈0.01）. Conclusions In patient with myeloid dysplasia syndrome, the percentage of cells originated from aberrant clone in dysplastic hematopoitic cells is significantly higher than that in non-dysplastic hematopoitic cells. In non-dysplastic erythroid and granuloid series, the percentage of cells originated from aberrant clone decreases as the cell matured. This suggests that the maturation of cells originated from aberrant clone could be inhibited.