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目的 报道 1例 t(15 ;17)的变异型插入易位 ins(17;15 ) (q2 1;q14 q2 2 )病例及其染色体涂染、逆转录 - PCR的研究结果。方法 骨髓细胞经直接法或 2 4 h培养和外周血单采白血病细胞培养 6天后制备染色体标本 ,以 R显带技术进行核型分析 ;以 15号和 17号整条染色体涂染探针进行染色体涂染 ;以逆转录 -PCR技术检测 PML - RARα和 RARα- PML融合基因的转录本。结果 该患者骨髓细胞和外周血白血病细胞染色体 R显带核型分析结果均提示 15 q-和 17q+;涂染研究证实 17号染色体长臂插入一段 15号染色体来源的染色体片段 ;逆转录 - PCR检出 PML- RARα融合基因短型转录本 ,未检出 RARα- PML 融合基因的转录本 ,符合 ins(17;15 )所致的遗传学改变。结论 染色体涂染和逆转录 - PCR技术是明确急性早幼粒细胞白血病患者涉及 15和 17号染色体插入易位的可靠手段。
Objective To report the results of a case of t (15; 17) mutated insert translocation ins (17; 15) (q2 1; q14 q2 2) and its chromosomal staining and RT-PCR. Methods Bone marrow cells were cultured by direct method or 24 h culture and peripheral blood leukocyte leukemia cells for 6 days. Karyotype analysis was performed by R banding technique. The whole chromosomes 15 and 17 were used to coat chromosomes The transcripts of PML - RARα and RARα - PML fusion genes were detected by RT - PCR. Results The chromosomal R-banding karyotyping of bone marrow cells and peripheral blood leukemia cells both showed 15q- and 17q + staining. The smear study confirmed that chromosome 17 was inserted into the long arm of chromosome 17 and the chromosome fragment was reverse-transcription-PCR The short transcripts of PML-RARα fusion gene were not detected RARα-PML fusion gene transcripts, in line with ins (17; 15) caused by genetic changes. Conclusions Chromosomal staining and RT - PCR are the reliable means to confirm the involvement of chromosome 15 and chromosome 17 in patients with acute promyelocytic leukemia.