中文摘要：

目的探讨慢性粒细胞白血病（CML）急性髓系白血病（AML）变伴t（3;21）（q26;q22）的受累基因.方法对1例CML AML变伴t（3;21）（q26;q22）患者细胞间期和中期分裂相细胞采用荧光原位杂交技术（FISH）检测AML1和bcr/abl基因重排,RT-PCR联合序列分析检测t（3;21）（q26;q22）受累基因.结果der（3）和der（21）染色体上均检测到AML1基因杂交信号,AML1-MDS1-Evi1、AML1-MDS1、AML1-EAP及Evi1基因均表达,未见AML1-Evi1融合基因表达,AML1-MDS1-Evi1基因表达水平是AML1-MDS1、AML1-EAP表达水平的1.58和1.54倍,患者Evi1基因表达水平是HEL细胞系Evi1表达水平的2.71倍.结论t（3;21）（q26;q22）导致形成AML1-MDS1-Evi1、AML1-MDS1融合基因及Evi1基因激活,这些继发的分子遗传学异常是CML急性变伴t（3;21）（q26;q22）患者急变发生的分子基础.

英文摘要：

Objective To explore genes involved in chronic myeloid leukemia （CML） with t（3 ;21 ） （q26;q22） chromosome translocation in blastic crisis. Methods A case of CML patient with t（3 ;21 ） （q26; q22） in blastic crisis was reported. AML1 and bcr/abl genes were detected by FISH in interphase and metaphase cells. Genes involved in t（3 ;21 ）（q26;q22） were analysed by RT-PCR and sequencing. Results AML1 gene hybridization signal was detected in der （ 3 ） and der （21） chromosomes. AML1-Evil, AML1- MDS1-Evil, AML1-EAP fusion transcripts and Evil gene were detected in mRNA level, but no AML1-Evil fusion transcript. The mRNA expression level of AML1-MDS1-Evil fusion gene was 1.58 and 1.54 times higher than that of AML1-MDS1 and AML1-EAP, respectively. The mRNA expression level of Evil gene of the patient was 2.71 times higher than that of HEL cell line. Conclusion t（ 3 ;21 ） （ q26 ;q22） resulted in the AML1-MDS1-Evil, AML1-MDS1, AML1-EAP fusion transcripts, and Evil gene was also activated by the translocation. These secondary aberrations should be the molecular basis of CML patient with t（3 ;21 ） （q26; q22 ） in blastic crisis.