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为探讨1例罕见的急性早幼粒细胞白血病插入型变异易位derins(17;15)的白血病细胞的生物学特征,联合应用G显带、间期荧光原位杂交、RT-PCR、基因扫描、基因测序和流式细胞术等对该例变异型易位患者进行了研究。结果表明:G显带所见的derins(17;15)是一种罕见的类型,联合应用间期荧光原位杂交技术、采用位点特异的双色pml/rarα融合探针证实了G显带的结果,间期FISH技术检测出几种信号类型,分子生物学方法证实该例虽具有插入型变异易位,但仍存在完整的pml/rarα基因。该病例经联合化疗达完全缓解,随访1年至今仍完全缓解。结论:t(15;17)变异型插入易位发生率低,其在间期荧光原位杂交中具有多种信号类型,本例应用联合化疗疗效明显。
To explore the biological characteristics of leukemia cells in a rare case of acute promyelocytic leukemia-inserted translocation derins (17; 15), G-banding, interphase fluorescence in situ hybridization, RT-PCR, , Gene sequencing and flow cytometry in this case of variant translocation patients were studied. The results show that derins (17; 15) seen in G-banding is a rare type that, in combination with interphase fluorescence in situ hybridization, uses a site-specific two-color pml / rarα fusion probe to confirm that G- As a result, several signal types were detected by the interphase FISH technique. Molecular biology confirmed that this gene has the insertional variation translocation, but there is still a complete pml / rarα gene. The case of complete remission by the combination of chemotherapy, 1 year follow-up is still completely relieved. CONCLUSION: The incidence of t (15; 17) variant insertion translocation is low. It has many signal types in interphase fluorescence in situ hybridization. In this case, the effect of combination chemotherapy is obvious.