间期荧光原位杂交技术在慢性淋巴细胞白血病检测中的应用

Genomic abnormalities detected by interphase fluorescence in situ hybridization in chronic lymphocytic leukemia

目的探讨慢性淋巴细胞白血病(CLL)基因组的异常情况及其临床意义。方法对17例初诊CLL患者进行常规细胞遗传学(CC)检测,同时应用着丝粒探针CSP12(12p11.1-12q11.1)和序列特异性探针D13s25(13q14.3)、ATM(11q22.3)、RB1(13q14)、p53(17p13.1)进行间期荧光原位杂交(I-FISH)。比较I-FISH与CC敏感性的差异。结果 CC检测18.75%有核型异常(3/16),1例未见核分裂相;I-FISH检测70.6%患者有基因异常(12/17),p53缺失11.8%(2/17)、ATM缺失5.6%(1/17)、13q-47.1%(8/17),其中包括RB1缺失23.5%(4/17)、D13S25缺失29.4%(5/17),12-三体29.4%(5/17),复杂基因组异常11.8%(2/17)。核型异常与性别、年龄、乳酸脱氢酶(LDH)、β2微球蛋白(β2-MG)及Binet分期无相关性。结论 I-FISH是检测CLL患者基因组异常的有效手段,与CC方法相比可明显提高CLL基因组异常的检出率。

Objective To investigate the correlation between genomic abnormalities in chronic lymphocytic leukemia（CLL）. Methods Routine R-banding was performed in 17 cases with CLL as well as five probes for DI3S25（13q14.3）, ATM（11q22.3）, RBI（13q14）, p53（17p13.1）, CSPI2（12pl 1.1-12q11.1） were simultaneously used to detect del（13q14.3）, del（11q22.3）, del（17pl3.1）, del（13ql4） and CSP12 by I-FISH. Results Among 17 cases of CLL, on conventional cytogenetics（CC） examination, only 3 cases（17.6%） were found to have chromosomal abnormalities including sole trisomy 12 in 2 cases and 13q- in one case; while on I-FISH, 12 cases （70.6%） were found to have genomie aberrations including del（17pl3.1） in 2 cases, del（llq22.3） in 1 cases, del（13ql3） in 4 cases, del（13q13.4） in 5 cases, trisomy 12 in 5 cases, among them two cases were complex abnormalities. Conclusion I-FISH is a more rapid, accurate and sensitive technique for detection of genomie aberration in CLL than CC.