FISH Signal Pattern for an APL Variant Translocation with a PRKAR1A-RARA Fusion.

Kenian Liu, Bei You, Jessica Duncan, Angela Root, Hailing Zhang
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Abstract

Objectives: Fluorescence in situ hybridization (FISH) is a quick and reliable test to detect the reciprocal t(15;17)(q22;q21) translocation in acute promyeloid leukemia (APL). The typical signal pattern for positive t(15;17) is one red, one green, and two fusion when using a PML/RARA dual fusion translocation probe. However, for variant translocations leading to the fusion of a RARA gene with an alternate gene partner, a RARA break-apart probe should be used to verify the RARA rearrangement. The typical signal pattern for a positive RARA break-apart probe is one red, one green, and one fusion. In this study, we report a rare APL case with a PRKAR1A-RARA fusion gene with a signal pattern distinct from that of t(15;17) and its other variants.

PRKAR1A-RARA融合在APL变异易位中的FISH信号模式
目的:荧光原位杂交(FISH)技术是检测急性早幼粒细胞白血病(APL)中t(15;17)(q22;q21)易位的一种快速、可靠的方法。当使用PML/RARA双融合易位探针时,正t(15;17)的典型信号模式是一个红色,一个绿色和两个融合。然而,对于导致RARA基因与另一个基因伴侣融合的变异易位,应该使用RARA分离探针来验证RARA重排。典型的RARA阳性分解探针信号模式是一个红色,一个绿色,和一个融合。在本研究中,我们报道了一例罕见的APL病例,其PRKAR1A-RARA融合基因的信号模式与t(15;17)及其其他变体不同。
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