Identification of classic and complex t(15;17) and/or RAR alpha/PML gene fusion in APL by cytogenetic and dual color-FISH techniques.

H Acar, M Dündar, J Stewart
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Abstract

Acute promyelocytic leukemia (APL) is a malignant condition characterized by t(15;17)(q22;q12), which fuses the PML gene on chromosome 15 to the retinoic acid receptor alpha (RAR alpha) gene on chromosome 17. In this study, t(15;17) was identified cytogenetically by using the conventional cytogenetic technique, and its molecular counterpart RAR alpha/PML fusion on chromosome 17 on interphase nuclei was further confirmed by means of dual color- (DC-) fluorescence in situ hybridization (FISH) on serial bone marrow (BM) and peripheral blood (PB) samples from APL patients at different stages of the disease. Overall, our findings indicate that interphase DC-FISH analysis can be a useful technique as an adjunct to conventional cytogenetic investigation for detecting the presence of RAR alpha/PML fusion in APL.

应用细胞遗传学和双色fish技术鉴定APL中经典和复杂t(15;17)和/或RAR α /PML基因融合。
急性早幼粒细胞白血病(Acute promyelocytic leukemia, APL)是一种以t(15;17)(q22;q12)为特征的恶性疾病,15号染色体上的PML基因与17号染色体上的视黄酸受体α (RAR α)基因融合。本研究采用常规细胞遗传学技术对t(15;17)进行了细胞遗传学鉴定,并通过对APL患者不同阶段骨髓(BM)和外周血(PB)样品进行双色荧光原位杂交(FISH)进一步证实了其在间期细胞核17号染色体上的分子对偶RAR α /PML融合。总之,我们的研究结果表明,间期DC-FISH分析可以作为常规细胞遗传学研究的辅助技术,用于检测APL中RAR α /PML融合的存在。
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