不同亚型急性早幼粒细胞白血病患者维甲酸受体α融合基因的表达分析

The relationship between APL subtypes and chromosome t(15;17) or PML-RARa fusion gene

目的探讨不同亚型急性早幼粒细胞白血病(APL)患者t(15;17)染色体易位及形成的早幼粒细胞白血病-维甲酸受体α(PML-RARa)融合基因情况。方法APL患者55例萁中粗颗粒型(M_(3a))23例,混合颗粒型(M_(3b))17例,细颗粒型(M_(3c))15例用常规细胞遗传学染色体核型分析方法观察其t(15;17)易位情况;用荧光原位杂交技术(FISH)检测不同亚型急性早幼粒细胞白血病患者PML-RARa融合基因的表达情况。采用SPSS 15.0软件进行统计分析,不同亚型的APL患者染色体易位t(15;17)及PML-RARa融合基因阳性率的比较采用X^2检验,以P<0.05为差异有统计学意义。结果 M_(3a)、M_(3b)、M_(3c)三种亚型的t(15;17)染色体易位阳性率:M_(3a)为82.61%(19/23),M_(3b)为82.35%(14/17),M_(3c)为80.00%(12/15),三种亚型之间差异无统计学意义(X^2=0.046,P>0.05)。三种亚型的PML-RARa阳性率:M_(3a)为95.65%(22/23),M_(3b)为94.12%(16/17),M_(3c)为100.00%(15/15),三种亚型之间差异无统计学意义(X^2=0.844,P>0.05)。APL患者FISH检测PML-RARa阳性率为96.36%(53/55),常规染色体核型分析染色体t(15;17)易位检出率81.82%(45/55),两者之间差异具有统计学意义(X^2=9.340,P<0.05)。结论M_(3a)、M_(3b)、M_(3c)三种亚型中t(15;17)染色体易位及形成的PML-RARa融合基因无显著性差异;FISH检测技术敏感度高于常规染色体核型分析。

Objective To investigate the relationship between the subtypes of acute promyelocytic leukemia （APL） and expression of chromosome translocationt （ 15 ; 17 ） or fusion gene of PML-RARa. Methods Fifty-five APL patients were studied in the research.APL subtypes were determined according to FAB classification.Conventional karyotype analysis was performed to study chromosome translocation t （15; 17） and fluorescent in situ hybridization （FISH）was employed to detect PML-RARa fusion gene. Results APL patients were classified into three subtpyes：M3~, M3b and M3c.The occurrence of t （15;17） and PML-RARa fusion gene were 82.61% （19/23） and 95.65% （22/23） in M3a, 82.35% （14/17） and 94.12% （16/17） in M3b, 80.00% （ 12/15 ） and 100.0% （ 15/15 ） in M3o respectively （ χ2 = 0. 046, P 〉 0. 05 ; χ2= 0.844, P 〉0.05）.The expression of t （15;17） and PML-RARa fusion gene were 81.82% （45/55）and 96.36% （ 53/55 ） respectively （ χ2 = 6. 476, P 〈 0.05 ）. Conclusions There are no statistic differences between the the APL subtypes and expression of chromosome translocation t （15;17） or PML-RARa fusion gene.FISH may be a more sensitive technique than conventional karyotype analysis.