A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene
| Authors | |
|---|---|
| Year of publication | 2010 |
| Type | Article in Periodical |
| Magazine / Source | Molecular diagnosis and therapy |
| MU Faculty or unit | |
| Citation | |
| Field | Oncology and hematology |
| Keywords | APL; PML; RARA; atypical fusion transcript |
| Description | Acute promyelocytic leukemia (APL) with atypical breakpoints in the promyelocytic leukemia (PML) and retinoic acid receptor-alfa (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 eith 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 bfrom fusion of PML exon 4 and a truncated form of transcription variant 2 of the RARA gene, with an additional 9bp insertion. According to our knowledge, this differs from all previously described fusion transcripts. |
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