目的 探讨成套探针荧光原位杂交(FISH)技术在慢性淋巴细胞白血病(CLL)患者染色体异常检测中的应用,并初步分析染色体异常与其他预后指标的相关性及其临床意义.方法 对21例初诊CLL患者同时应用序列特异性探针D13S25(13q14.3)、RB1(13q14)、ATM(11q22.3)、p53(17p13.1)及着丝粒探针CSP12(12p11.1-12q11.1)进行间期FISH检测,分析患者染色体异常的发生率,同时分析染色体异常与CLL患者年龄、性别、Binet分期、CD38表达及乳酸脱氢酶(LDH)间的相关性,并对生存情况进行初步观察.结果 21例CLL患者中,13例发现有染色体异常(61.90％),其中11例为单条染色体异常,1例为2条染色体异常,1例为3条染色体的复杂异常.按染色体异常发生率的高低依次为13q14-9例(42.86％)(其中D13S25单独缺失7例,D13S25和RB1同时缺失2例),+123例(14.29％),11q22-(ATM缺失)2例(9.52％),17p13-(p53缺失)2例(9.52％).染色体异常与患者年龄、性别、Binet分期、CD38表达以及LDH水平未发现相关性.结论 成套探针FISH技术能够快速、敏感、准确地检测CLL患者的染色体异常.%Objective To investigate the significance of fluorescence in situ hybridization (FISH) panel in detecting cytogenetic abnormalities in patients with chronic lymphocytic leukemia (CLL).Methods A panel of FISH probes [D13S25 (13q14.3),RB1 (13q14),ATM(1 1q22.3),CSP12(12p1 1.1-12q1 1.1) and p53 (17p13.1)] were performed in 21 cases with CLL.The cytogenetic features in correlation with clinical manifestation,other laboratory tests and prognosis were analyzed.Results Cytogenetic abnormalities were found in 13 of 21 patients with CLL (61.90 ％).The most frequent abnormality was del(13q14) (42.86 ％),followed by trisomy 12 (14.29 ％),del(11q22) (9.52 ％) and del(17p13) (9.52 ％).There was no significant relationship among cytogenetic abnormalities and sex,binet stages,expression of CD38,level of lactate dehydrogenase.Conclusion FISH with probe panel is a rapid,sensitive and accurate technique for detection of cytogenetic abnormalities in patients with CLL.
展开▼
