染色体3q21q26畸变的特征分析

Characteristics of Cases with Chromosome 3q21q26 Aberrations

为了探讨inv(3q)(q21q26)和t(3;3)(q21;q26)畸变的细胞遗传学特征和临床特征及预后,收集临床病例并将患者的骨髓细胞24小时培养,常规方法制备染色体,G显带进行核型分析。结果表明:单纯inv(3q)和t(3;3)畸变少见,它们常合并-7/7q-、t(9;22)等其它染色体异常。涉及的疾病有骨髓增生异常综合征、急性髓系白血病以及慢性髓系白血病急变期。2例急性髓系白血病M5患者经多疗程化疗未获完全缓解,2例异基因造血干细胞移植患者均复发。结论:3q21q26畸变常合并预后差的染色体异常单体7/7q-,对这些患者常规治疗效果差,移植效果差,具有inv(3q)和t(3;3)畸变的患者预后不良,生存时间短。

To investigate the cytogenefic and clinical characteristics of inv（3q） （q21q26） and t（3;3） （q21 ;q26） aberrations as well as prognosis, cases were collected and chromosome specimens of bone marrow cells were prepared by 24-hour culture, while G-banding technique was used to perform karyotyping. The results showed that the simple inv （3q） and t（3 ;3 ） aberrations were rare, they commonly combined with other chromosome aberrations such as -7/7q- and t（9 ;22）. The involved diseases included myelodysplastic syndromes, acute myeloid leukemia and chronic myelogenous leukemia in blast crisis. Out of 24 patients, 2 patients diagnosed with M5 subtype did not achieve complete remission after multiple chemotherapy; 2 patients recieved allogenic stem cell transplantion relapsed. It is concluded that 3q21q26 aberration commonly combined with chromosome aberration 7/7q-, for these patients the efficacy of chemical therapy is poor, the efficacy of bone marrow transplant is too poor, these patients with inv（3q） and t（3 ;3 ） aberrations have poor prognosis and short overall survival.