Thomas Pretzsch, Steve Progscha, Thomas Burmeister
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引用次数: 0
Abstract
We describe the case of a chronic myeloid leukemia (CML) patient with a rare atypical e18a2 BCR::ABL1 transcript. The generation of this transcript was explained by a detailed molecular analysis, including the identification of both chromosomal breakpoints (BCR::ABL1 on der(22) and ABL1::BCR on der(9)) at the genomic level. The use of a cryptic splice site in intron 1 of ABL1 led to the generation of an in-frame BCR::ABL1 fusion transcript. The diagnostic difficulties caused by this atypical variant and its implications for diagnostic routine are discussed.
我们描述了一例慢性髓性白血病（CML）患者罕见的非典型e18a2 BCR::ABL1转录本。该转录本的产生是通过详细的分子分析来解释的，包括在基因组水平上鉴定两个染色体断点（BCR::ABL1 on der（22）和ABL1::BCR on der(9)）。ABL1内含子1上的一个隐剪接位点的使用导致了帧内BCR::ABL1融合转录物的产生。本文讨论了这种非典型变异引起的诊断困难及其对常规诊断的影响。
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