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目的:了解+8和-7/7q-克隆在骨髓增生异常综合征(MDS)中的发生情况,探讨+8和-7/7q-克隆在MDS发生发展中的可能机制及其临床意义。方法:采用短期培养法和G显带技术,对MDS患者的染色体异常、尤其+8和-7/7q-核型进行分析。结果:70例原发性MDS患者中,有43例存在染色体异常,异常检出率为61.4%,最常见的染色体异常为+8(18例)和-7/7q-(8例),其中4例为+8与-7/7q-并存。+8克隆多出现在RA阶段,而-7/7q-克隆则出现在疾病进展中。伴有-7/7q-核型的MDS,更容易转化为白血病。结论:+8和-7/7q-核型仍是MDS最为常见的染色体异常。+8克隆出现在MDS的早期,可能与Fas介导的细胞凋亡有关;而-7/7q-克隆的形成,导致MDS的进展及向白血病转化,可能与丢失片段的抑癌基因的失活有关。
OBJECTIVE: To investigate the occurrence of +8 and -7 / 7q-clones in myelodysplastic syndrome (MDS) and explore the possible mechanism and clinical significance of +8 and -7 / 7q-clones in the development of MDS. Methods: Chromosomal abnormalities, especially +8 and -7 / 7q-karyotypes, were analyzed in MDS patients using short-term culture and G-banding techniques. RESULTS: Of 70 patients with primary MDS, 43 had chromosomal abnormalities with an abnormality of 61.4% and the most common chromosomal abnormalities were +8 (18 cases) and -7 / 7q- (8 cases), of which, 4 cases of +8 and -7 / 7q-co-exist. More than 8 clones appeared in the RA stage, while -7 / 7q-clones appeared in disease progression. With -7 / 7q-karyotype MDS, more easily converted to leukemia. Conclusion: The +8 and -7 / 7q-karyotypes are still the most common chromosomal abnormalities in MDS. +8 clones appeared in the early stage of MDS, which may be related to Fas-mediated apoptosis. The formation of -7 / 7q-clones led to the progression of MDS and its transformation to leukemia, which may be related to the inactivation of tumor suppressor genes related.