荧光原位杂交技术在急性粒-单核细胞白血病inv(16)检测中的应用研究

为了探讨荧光原位杂交(FISH)技术检测inv(16)(p13q22)，在急性粒．单核细胞白血病临床诊断和预后判断中的意义，采用MYH11探针，包括双重标记序列，对6例形态学诊断为急性粒．单核细胞白血病的骨髓细胞中期染色体进行CBFβ-MYH11融合基因的检测，并与经典细胞遗传学比较。结果表明：G显带核型分析发现4例inv(16)(2例M4Eo和2例M4)，其中1例M4同时伴有22三体( 22)，1例为M4CR8个月后复发同时伴亚2倍体核型。FISH检测6例均显示inv(16)异常荧光信号，其中例2除inv(16)外还同时发现16p13缺失的红色荧光信号。结论：FISH检测inv(16)的敏感性高，特异性强，是细胞遗传学检查的重要补充，对M4的临床诊断，预后判断具有重要的临床价值。

Study on the Detection of inv (16) in Acute Myelomonocytic Leukemia (M4) by Flucorescence in situ Hybridization Method

To study the clinical significance of the detection of inv(16) (p13 q22) by FISH in the diagnosis and prognosis for M(4), the metaphase bone marrow cells of 6 cases M(4) which had already diagnosed by morphology were detected for CBFbeta-MYH(11) fusion gene by MYH 11 probe including dual labelled sequences and the results were compared with that of conventional cytogenetic analysis. The results showed that 4 cases inv(16) (two M(4) EO and two M(4)) were found by G banding kanyotyping test. One case M(4) had trisomy (+22) in addition to inv(16); one case M(4) had hypodiploid in addition to inv(16), which relapsed after CR 8 months. All 6 cases had inv(16) abnormal fluorescence signal. Among them case No 2 had the deletion of 16p13 showed by red fluorescence signal in addition to inv(16). It is concluded that the detection of inv(16) by FISH is of sensitivity and specificity. It is the important supplement to the conventional cytogenetic analysis. It possesses the important clinical significance in the diagnosis and prognosis of M(4) patients.