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

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。

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

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 G-banding techniques were performed to analysis chromosome aberrations, especially +8 and -7/7q- karyotypic abnormalities. The genesis of clonal +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 abnormality. 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:+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 concerned with inactivation of anti-oncogenes located at lost fragments.