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目的:探讨荧光原位杂交(FISH)技术检测慢性淋巴细胞白血病(CLL)患者染色体异常的临床价值。方法:运用FISH技术,采用5种特异性DNA探针检测46例CLL患者的染色体异常,并结合患者的临床资料,分析各种染色体异常在临床诊断及预后判断中的价值。结果:46例CLL患者中,32例出现染色体异常,总异常检出率为69.6%,其中del(11q22.3)8例(17.4%),del(13q14.3)14例(30.4%),P53缺失7例(15.2%),del(13q14)5例(10.9%),CSP12阳性10例(21.7%)。结论:FISH技术检测染色体异常的敏感性和特异性较高。del(13q14)是CLL患者最常见的染色体异常。存在基因异常的患者预后较正常者差,尤其是存在P53基因缺失的患者。
Objective: To investigate the clinical value of fluorescent in situ hybridization (FISH) in detection of chromosomal abnormalities in patients with chronic lymphocytic leukemia (CLL). Methods: FISH was used to detect the chromosomal abnormalities in 46 CLL patients by using 5 kinds of specific DNA probes. Combined with the clinical data of patients, we analyzed the value of various chromosomal abnormalities in clinical diagnosis and prognosis. Results: Of the 46 CLL patients, chromosomal abnormalities were found in 32 cases and the total abnormality was 69.6%. Among them, 8 (17.4%) were del (11q22.3) and 14 (30.4%) were del (13q14.3) P53 deletion was found in 7 cases (15.2%), del (13q14) in 5 cases (10.9%) and CSP12 positive in 10 cases (21.7%). Conclusion: The sensitivity and specificity of FISH to detect chromosomal abnormalities are high. del (13q14) is the most common chromosomal abnormality in CLL patients. The prognosis of patients with gene abnormalities is worse than normal, especially in patients with P53 gene deletion.