一个新型 PML/RARA 短融合转录本的病例，该融合转录本截断了 RARA 基因的转录变体 2。
A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene.
机构信息
Center of Molecular Biology and Gene Therapy, Department of Internal Medicine-Hemato-oncology, University Hospital Brno and Masaryk University, Brno, Czech Republic.
出版信息
Mol Diagn Ther. 2010 Apr 1;14(2):113-7. doi: 10.2165/11317400-000000000-00000.
Acute promyelocytic leukemia (APL) with atypical breakpoints in the promyelocytic leukemia (PML) and retinoic acid receptor-alpha (RARA) genes represents a rare leukemic event, which occurs preferentially in patients with variant types of the PML/RARA fusion gene. Here we report on a patient with APL with a unique PML/RARA fusion transcript that harbors a short type of this fusion gene, exhibiting unexpected results of standard PCR diagnostics. The detected transcript originates from fusion of PML exon 4 and a truncated form of transcription variant 2 of the RARA gene, with an additional 9 bp insertion. According to our knowledge, this differs from all previously described fusion transcripts.
急性早幼粒细胞白血病（APL）伴早幼粒细胞白血病（PML）和维甲酸受体-α（RARA）基因的非典型断点代表一种罕见的白血病事件，主要发生在具有 PML/RARA 融合基因变异型的患者中。在这里，我们报告了一例 APL 患者，其 PML/RARA 融合转录本具有这种融合基因的短型，表现出标准 PCR 诊断的意外结果。检测到的转录本源自 PML 外显子 4 与 RARA 基因转录变体 2 的截断形式融合，并有 9 个碱基对的额外插入。据我们所知，这与以前描述的所有融合转录本都不同。
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