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

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。

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

Objective To investigate ATM deletion [del(ATM)] in chronic lymphocytic leukemia(CLL).Methods SpectrumOrange~(TM) labaled sequence specific DNA probe for ATM locus 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 Del(ATM) was found in 6 of 50 cases 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.