PML/RARα融合基因不典型FISH信号模式的APL的实验与临床特征研究  

The clinical and laboratory research of thirteen acute promyelocytic leukemia patients with atypical signal modes in FISH detection of PML/RARα fusion

作　　者：刘淑媛[1] 栾树清[1] 闻芳[1] 简正伟[1] 万腊根[1] 张长林[1] 

机构地区：[1]南昌大学第一附属医院检验科,江西南昌330006

出　　处：《实验与检验医学》2014年第4期374-377,391,共5页Experimental and Laboratory Medicine

基　　金：江西省自然科学基金项目(编号:20122BAB205025)

摘　　要：目的探讨伴有PML/RARα不典型FISH信号模式的急性早幼粒细胞白血病的临床和实验室特征。方法采用PML/RARα的DCDF-FISH技术、染色体核型分析及FLT3-ITD突变检测技术对初诊的52例急性早幼粒细胞白血病患者骨髓标本进行检测,比较FISH信号模式与其他检测结果的关系。结果在检测的52例标本中,51例存在PML/RARα融合基因,阳性率高达98.1%;51例FISH阳性患者中38例为典型的1R1G2F信号,13例呈不典型信号模式,其中2例为1R1G1F,3例为1R1G3F,6例为2R2G1F,1例为1R2G1F,1例为2R1G1F。将不典型FISH信号模式组和典型FISH信号模式组进行比较,我们发现不典型组的高白患者比率较典型组高(P>0.05);且不典型FISH信号模式组中复杂核型与FLT3-ITD突变的发生率明显高于典型信号组(P<0.05)。结论具有不典型FISH信号模式的APL患者常伴有复杂核型,FLT3-ITD突变等预后不良的指标,其具体作用方式仍有待进一步探讨。Objective To explore the clinical and laboratory characteristics of acute promyelocytic leukemia with atypical signal modes in FISH detection of PML/RARα fusion. Methods Bone marrow samples from 52 patients with newly diagnosed a-cute promyelocytic leukemia were detected with DCDF-FISH for PML/RARα, karyotype analysis and PCR for gene mutation of FLT3-ITD.The relations between signal modes of DCDF-FISH and other test results were analyzed. Results PML/RARα fusion was identified in 51 （98.1%） among 52 patients. We found that 38 cases had a typical signal mode （1R1G2F） and 13 cases had atypical signal modes including 2 1R1G1F, 3 1R1G3F, 6 2R2G1F, 1 1R2G1F, 1 2R1G1F. Comparing the clinical and laboratory characteristics of these two groups, we found that a high WBC was more prevalent in patients with atypical FISH signal modes （P〉0.05）, and the atypical FISH signal modes were associated with higher percentage of complex chromosome abnormalities and FLT3-ITD （P〈0.05）. Conclusion APL patients with atypical FISH signal modes are often accompanied by some poor prognostic indicators such as complex chromosome abnormality and FLT3-ITD mutation,but the mechanism needs to be further discussed.

关 键 词：急性早幼粒细胞白血病 不典型FISH信号模式 FLT3-ITD突变 复杂核型异常 

分 类 号：R733.7[医药卫生—肿瘤]