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纸质出版日期:2014,
网络出版日期:2014-7-20,
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114 例骨髓增生异常综合征的染色体核型与预后分析[J]. 中山大学学报(医学科学版), 2014,35(4).
Karyotype and Prognosis Analysis of 114 Cases of Myelodysplastic Syndrome[J]. Journal of Sun Yat-sen University (Medical Sciences), 2014,35(4).
114 例骨髓增生异常综合征的染色体核型与预后分析[J]. 中山大学学报(医学科学版), 2014,35(4). DOI:
Karyotype and Prognosis Analysis of 114 Cases of Myelodysplastic Syndrome[J]. Journal of Sun Yat-sen University (Medical Sciences), 2014,35(4). DOI:
摘 要: 【目的】 研究骨髓增生异常综合征(MDS)患者的细胞遗传学之间的关系和临床意义。【方法】 采用直接法、短期培养法和RHG显带技术制备染色体, 进行核型分析。【结果】 114例MDS中49例检出异常染色体核型,占42.98%,其中难治性贫血伴原始细胞增生异常(RAEB)-Ⅰ、Ⅱ型染色体核型异常所占比例较高。单纯数目异常核型改变+8检出频率最高,随访68例中有14例转白血病,转化率为20.59%,核型异常者及IPSS评分高危组向白血病转化几率明显高于核型正常者及IPSS积分低危组(P < 0.05)。 【结论】 骨髓增生异常综合征的染色体核型异常,各亚型之间有较大的差异,细胞遗传学在MDS 的诊断、病情发展和预后判断中有着至关重要的作用。
Abstract: 【Objective】 To explore the implication of karyotype analysis in diagnosisand prognosis of myelodysplastic syndrome (MDS). 【Methods】 The chromosomes wereprepared with direct method, brief culture of cells and R-banding techniques, andthen the karyotypic analysis was performed. 【Results】 Forty-nine out of 114 patients(42.89%) showed karyotypic abnormalities, including the numeral abnormalities ofchromosomes and structural alterations. The most common chromosomal aberrationswere +8. The rate of abnormal karyotype in RAEB I, II were much higher than othersMDS. The patients with abnormal karyotype or higher IPSS scores had a higher riskof transformation into acute leukemia than the patients with normal karyotype orlower IPSS scores (P < 0.05). 【Conclusion】 MDS is a highly heterogenous disorder andkaryotype analysis is helpful for its diagnosis and prognosis estimation.
骨髓增生异常综合征染色体核型核型异常预后积分系统
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