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摘要: 目的:探讨孤立性染色体异常i(17q)在血液肿瘤中表达的意义。方法:对172例血液肿瘤患者的骨髓细胞进行常规核型分析,对伴有i(17q)染色体异常者采用荧光原位杂交及RT-PCR技术检测RARα基因重排,流式细胞术检测骨髓细胞免疫表型,并分析患者临床特点。结果:172例患者中,12例出现染色体异常i(17q),其中9例伴有其他染色体异常,3例为孤立性i(17q)。3例孤立性i(17q)患者中,1例为急性髓系白血病,1例为骨髓增生异常综合征,1例为慢性粒单核细胞白血病,均无RARα基因重排,且对常规化疗效果差,生存期分别为45 d、4个月和2个月。结论:孤立性i(17q)染色体异常在血液肿瘤中非常少见,主要见于髓系肿瘤,预后可能较差。
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关键词:
- 等臂染色体i(17q) /
- 白血病 /
- 骨髓增生异常综合征
Abstract: Objective: To explore the clinical significance of the expression of isolated isochromosome 17q in hematologic tumors.Method: Karyotype analysis was performed on the bone marrow samples of 172 hematologic tumor patients.RT-PCR and fluorescence in situ hybridization (FISH) were applied to detect RARα gene rearrangement and flow cytometry was used to detect immunophenotype of bone marrow cells of patients with isolated isochromosome 17q.We analyzed the clinical characteristics of such patients.Result: Twelve of 172 patients were detected to carry isochromosome 17q.Nine of them were accompanied by other abnormalities and the other three cases were detected to carry only isolated isochromosome 17q.One of them was acute myeloid leukemia,one was myelodysplastic syndrome and the other one was chronic myelomonocytic leukaemia.Neither of them was detected to carry RARα gene rearrangement.All of them responded poorly to routine chemotherapy and the overall survival was 45 days,4 and 2 months repectively.Conclusion: Isochromosome 17q is a rare cytogenetic abnormality in hematologic tumors and such patients usually have poor prognosis.-
Key words:
- isochromosome 17q /
- leukemia /
- myelodysplastic syndrome
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