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荧光原位杂交技术检测骨髓增生异常综合征患者5、7、8号染色体异常及临床意义 被引量:4

Detection of cytogenetic abnormalities involving chromosomes 5,7 and 8 in myelodysplastic syndromes with fluorescence in situ hybridization and its clinical significance
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摘要 目的用荧光原位杂交(FISH)技术分析骨髓增生异常综合征(MDS)患者的染色体改变及预后。方法用常规细胞遗传学分析和FISH法分析37例MDS患者8、5、7号染色体的异常变化。用SPSS11.5统计软件,对患者的遗传学异常与疾病转归、预后之间关系进行相关性检验。结果检出染色体异常21例(56.8%),其中复杂异常6例(16.2%),8号染色体异常9例(24.3%),-5/5q-异常2例(5.4%),-7/7q-异常2例(5.4%)。平均随访12个月,1例失访,22例存活,14例死亡,12例转变为急性白血病。复杂核型与MDS的急性白血病转化及死亡密切相关;8号染色体三体和-7/7q-与死亡相关。结论FISH能敏感地检测出小克隆的异常,应用多种探针并结合染色体检测能较准确判断MDS患者的预后,异常核型比例高提示预后差。 Objective To identify the abnormal karyotypes by fluorescence in situ hybridization (FISH) and explore prognostic implications in patients with myelodysplastic syndromes (MDS). Methods FISH was used to detect the frequently occurring chromosome abnormalities ( - 5/5q, + 8, - 7/7q - ) in 37 MDS eases. SPSS 11.5 software and correlation analysis were used to analyze the relativity among the abnormal chromosomes, the prognosis and the disease conversion in 37 MDS patients. Results Karyotype abnormalities were found in 21 (56.8%) of 37 cases, among which 6 ( 16.2% ) were complex karyotypes, 9 (24.3%) +8, 2(5.4% ) -5/5q -, 2(5.4% ) -7/7q -. In the median time of follow-up of 12 months, 12 eases transformed into acute leukemia. Complex karyotypes were significantly associated with the poor prognosis and leukemia transformation. + 8 and - 7/7q - abnormalities were correlated with the death. Condusions FISH was more sensitive than conventional cytogenetics for detecting mini-clonal abnormality. There are some differences in abnormal karyotypes between patients in China and the western countries. Multiprobes used in cytogenetic detections may predict the patient' s prognosis more accurately. The higher proportion of abnormal karyotypes the poorer prognosis.
出处 《中华血液学杂志》 CAS CSCD 北大核心 2007年第1期6-10,共5页 Chinese Journal of Hematology
关键词 骨髓增生异常综合征 原位杂交 荧光 预后 Myelodysplastic syndrome In situ hybridization, fluorescence Prognosis
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