双色间期荧光原位杂交检测急性粒-单核细胞白血病inv(16)

 目的 探讨双色荧光原位杂交（D-FISH）技术在检测急性粒-单核细胞白血病（M4）inv（16）中的价值。方法 用荧光素直接标记的双色断裂点分离的基因探针CBFβ对42例M4患者进行间期D-FISH检测，并与常规细胞遗传学进行比较分析。结果 采用R显带核型分析的42例M4患者均未发现inv(16)，而D-FISH检测发现10例（23.8 %）inv(16)，阳性率为30.1 % ~ 98.0 %，平均阳性率82.1 %。5例M4Eo患者均伴有inv(16)。10例阳性患者中7例核型正常，2例伴+22，1例伴+8。结论 inv(16)在M4中阳性率为23.8 %，与M4Eo密切相关；用CBFβ双色探针进行D-FISH为检测inv(16)提供了有效的方法，是细胞遗传学检查的重要补充。

Use of dual-color interphase FISH for the detection of inv (16) in acute myelomonocytic leukemia

Objective To explore the value of dual-color fluorescence in situ hybridization (D-FISH) in the detection of inv(16)(p13q22) in acute myelomonocytic leukemia (M4). Methods Forty-two M4 patients were investigated by interphase D-FISH with two-color break apart probe CBFβ. The results were compared with that of conventional cytogenetic analysis. Results R-banding karyotyping did not find inv(16) in any of the 42 patients. But 10 (23.8 %) patients including all five M4Eo cases had inv(16) by D-FISH analysis. The mean positive rate was 82.1 % (range 30.1 % ~ 98.0 %). The karyotypes of the 10 patients were normal (sev－en cases), with trisomy 22 (two cases) or with trisomy 8 (one case). Conclusion Inv(16) appeared in 23.8 % of M4 and had a close relationship with M4Eo. Dual-color interphase FISH with CBFβ probe provides a pow－erful technique for the detection of inv(16) and is an important supplement to the conventional cytogenetic analysis.