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目的:报道1例罕见的初诊为t(15;17)的急性早幼粒细胞白血病复发后演变成ins(17;15)的病例,并探讨其临床和实验室特点。方法:骨髓细胞经直接法和24h培养法制备染色体标本,以R显带技术进行核型分析;采用染色体15号和17号位点特异双色双融合PML/RARa基因探针进行荧光原位杂交。结果:该患者初诊时染色体核型分析结果为t(15;17)(q22;q12),荧光原位杂交结果显示2红2绿1融合(2R2G1F)的异常信号。经诱导化疗及巩固治疗后,达到完全缓解,但是1年后复发,核型演变成ins(17;15)(q12;q14q22),7个月后又第2次复发。结论:ins(17;15)可以从t(15;17)的核型演变而来,可能提示病情恶化,预后不佳。
OBJECTIVE: To report a case of a rare case of acute promyelocytic leukemia (15; 17) newly diagnosed as ins (17; 15) after relapse and to investigate its clinical and laboratory characteristics. Methods: Chromosome specimens were prepared from bone marrow cells by direct method and 24h culture method. The karyotypes were analyzed by R banding technique. Fluorescence in situ hybridization was performed by using PML / RARa gene probes specific for chromosome 15 and 17. Results: The karyotype analysis of this patient at the time of first visit was t (15; 17) (q22; q12). Fluorescence in situ hybridization showed the abnormal signal of 2R2G1F fusion. After induction of chemotherapy and consolidation therapy, complete remission, but the recurrence after 1 year, the karyotype evolved ins (17; 15) (q12; q14q22), 7 months after the second relapse. CONCLUSIONS: Ins (17; 15) can evolve from the karyotype of t (15; 17) and may indicate a worsening of the disease with a poor prognosis.