间期荧光原位杂交技术检测慢性淋巴细胞白血病ATM基因缺失

DETECTION OF ATM DELETION IN CHRONIC LYMPHOCYTIC LEUKEMIA BY INTERPHASE FLUORESCENCE IN SITU HYBRIDIZATION

目的探讨慢性淋巴细胞白血病(CLL)中ATM基因缺失及其与其他染色体异常及临床分期的相关性。方法运用间期荧光原位杂交技术(I-FISH)和Spectrum OrangeTM标记的位于11q22.3的序列特异性DNA探针ATM对50例初诊CLL患者的染色体标本进行了ATM缺失的检测,同时检测del(13q14)、del(17p13.1)和免疫球蛋白重链基因重排。临床分期按照Binet分期方法。结果50例患者中有6例(12%)ATM缺失;其中4例伴有其它染色体异常。20例Binet A期患者中,3例(15%)存在异常;10例Binet B期患者中,2例(20%)存在异常;13例Binet C期患者中,1例(7.7%)存在异常。ATM缺失在Binet A、B及C期中无统计学差异(P>0.05)。结论I-FISH与常规染色体分析技术相比是一种快速、准确及敏感的方法,对我国CLL患者的预后预测价值有待进一步的深入研究。

Objective To investigate ATM deletion [del（ATM）] in chronic lymphocytic leukemia （CLL）. Methods SpectrumOrangeTM labaled sequence specific DNA probe for ATM lo cus on 11q22.3 and interphase fluorescence in situ hybridization （I-FISH） was used to examine del （ATM） in 50 newly diagnosed patients with CLL. Inspection of Del（13q14）, del（17p13.1） and IgH rearrangement were made by I-FISH. Clinical staging was done according to Binet Method. Results 13el（ATM） was found in 6 of 50 eases with CLL, and 4/6 cases had additional chromosomal aberrations. The incidence of del（ATM） in Binet A, Binet B and Binet C was 3/20 （15%）, 2/ 10 （20%） and 1/13 （7.7%）, respectively. Del（ATM） was not serious among three Binet stages （P〉0.05）. Conclusion I-FISH is a rapid, accurate and sensitive technique in analysing del （ATM）, and the significance of del（ATM） in the prognosis of CLL in China needs to be further investigated.