A Case of a Novel PML/RARA Short Fusion Transcript with Truncated Transcription Variant 2 of the RARA Gene
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Acute promyelocytic leukemia (APL) with atypical breakpoints in the promyelocytic leukemia (PML) and retinoic acid receptor-α (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.
KeywordsFusion Gene Acute Promyelocytic Leukemia Fusion Transcript Acute Promyelocytic Leukemia Patient RARA Gene
This work was supported by research grant no. MSM0021622430 from the Ministry of Education, Youth and Sports, Prague, Czech Republic. The authors have no conflicts of interest that are directly relevant to the content of this study.
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