骨髓增生异常综合征克隆性8号染色体三体和7号染色体缺失的发生及其临床意义

Clinical significance of trisomy 8 and monosomy 7/7q deletion in myelodysplastic syndrome

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 clonal trisomy 8 （＋8） and monosomy 7/ 7q deletion （- 7/7q-） in myelodysplastic syndrome （MDS）, and explore the possible pathogenesis and clinical significance of clonal -/-8 and -7/7q- in genesis and development of MDS. Method： Brief culture of bone marrow cells and Gbanding techniques were performed to analysis chromosome aberrations, especially ＋8 and -7/7q- karyotypic abnormalities. The genesis of clonal q-8 and --7/7q- in MDS and the influence of it on development of MDS were discussed based on literature. Result：Of 70 patients with primary MDS, 43（61.4%） had chromosome abnor- mality. The frequent karyotypic abnormality are ＋8 （18 cases ） and --7/7q- （8 cases）. Clonal ＋8 mainly see at refractory anemia （RA）, while clonal -7/7q- present in progress of MDS. MDS with --7/7q-- karyotype is easily transformed to acute myeloid leukemia （AML）. Conclusion： q-8 and --7/7q-- karyotypes are still most frequent chromosome aberrations in MDS. Occurrence of clonal ＋8 at early MDS is possibly related to Fas-mediated apoptosis, while evolving into AML from MDS with clonal --7/7q-- presented in progression is possibly con- cerned with inactivation of anti-oncogenes located at lost fragments.