4种荧光原位杂交探针检测隐匿易位急性早幼粒细胞白血病的比较

Comparison of four FISH probes in detecting cryptic translocations of acute promyelocytic leukemia

目的:比较4种临床常用荧光原位杂交(fluorescence in situ hybridization, FISH)探针对罕见隐匿PML-RARα插入易位急性早幼粒细胞白血病(acute promyelocytic leukemia, APL)的检测能力。方法:联合FISH、RT-PCR及常规染色体核型分析技术检测3例罕见APL病例相关融合基因及染色体异常,其中FISH技术采用4家不同公司PML-RARα探针进行检测。结果:FISH方法检测罕见插入易位PML-RARα融合时,由于片段短小极易出现假阴性的情况。4家不同探针FISH检测结果显示,美国Abbott公司探针3例PML-RARα融合基因检测均为阴性;英国Cytocell公司探针检测到2例阳性,1例阴性;武汉康录和广州安必平公司探针在3例中均成功检测到融合信号。结论:康录和安必平公司探针PML-RARα检出率高,是FISH检测此类罕见PML-RARα融合基因时的更优选择。

Objective: To study the detection ability of four commonly used fluorescence in situ hybridization(FISH) probes in cryptic PML-RARα translocation cases. Methods: Combined use of FISH, RT-PCR and conventional karyotyping techniques to detect APL-related fusion genes and chromosomal abnormalities of three insertional APL cases. PML-RARα FISH probes were from four different companies. Results: When use FISH method to detect rare insertional PML-RARα fusions genes, false negatives are prone to occur due to the short fragments. Comparative detection results of four sets of PML-RARα probes showed that all three were false-negative by Abbott probe while one false-negative and two positives by Cytocell probe. Kanglu and Anbiping probes detected fusion signals in all three cases. Conclusion: Kanglu and Anbiping probes had the highest positive detection rate, which were better choice for detecting such rare cryptic PML-RARα fusion genes by FISH technique.