骨髓增生异常综合征的染色体变化和病态造血

本文用短期培养法,G显带技术研究51例骨髓增生异常综合征(MDS)患者骨髓核型变化,并用记分法定量研究46例MDS的病态造血的程度。结果表明,克隆性染色体异常率为49％,最常见的异常为 8。检出染色体均染区2例,提示癌基因扩增;检出自发性早熟凝聚染色体6例,与多核细胞及多倍体细胞相关。发现病态造血严重者其核型异常率也较高。

Studies on Chromosome Aberrations and Dyshem opoiesis in Myelodysplastic Syndromes

G banding chromosome analysis of bone marrow cells from 51 cases of MDS, including 34 cases of RA, 4 cases of RAS, and 13 cases of RAEB, was carried out using a short term culture method. The morphological abnormalities of dyspoiesis of 46 patients were studied and correlated with chromosomal changes. The results were as follows: Forty-nine percent of the cases had abnormal karyotypes. The frequency of clonal abnormalities was 36.8 percent in RA and RAS, and 84.6 percent in BAEB. The most important aberrations were +8 in 7, HSR in 2, and "spontaneous" PCC in 6 cases. The latter 2 abnormalities had rarely been reported in the literature. Other findings included 1p+, dup (1) (q25q44), -2, 4p+, -5, 5q-, +8p, -12, 12p+, 12q-, -14, 14q+, t (1; 14), -15, +/-16, +/-17, -18, +19, +20, 20q-, +/-21, +/-22, -X, -Y, +Mar, etc. The study also showed a close relation between chromosome aberrations and dyspoiesis. +8 patients tended to have a high percentage of micronuclei in their erythroblasts, and their dyspoiesis usually involved three cell lineages. Patients with PCC were found to have more polyploid metaphases (in cytogenetic studies) and more multinuclear cells (in bone marrow aspirate slides). The results of our study revealed that the more severe dyspoiesis is, the higher the frequency of chromosome aberrations. We consider chromosome abnormalities to play an important role in the pathogenesis of MDS, with cell fusion being involved as well.