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Published on: March 26, 2018
Identification of two atypical PML-RAR(alpha) transcripts in two patients with acute promyelocytic leukemia
Eva Barragán1, Pascual Bolufer, Guillermo Martín
1Laboratory of Molecular Biology, Department of Clinical Pathology, Centro Maternal, Hospital Universitario La Fe, Avda Campanar 21, 46009 Valencia, Spain.
Abstract:
We identified two patients with atypical PML-RAR(alpha) rearrangements, 53 and 13 base pairs longer than the typical bcr1 transcript. Sequence analysis revealed a new PML breakpoint at the end of exon 7a in patient 1, and a PML exon 6 breakpoint in patient 2, with an insertion of 35 nucleotides of RAR(alpha) intron 2. Patient 1 did not express RAR(alpha)-PML and patient 2 showed the RAR(alpha)-PML transcript, which corresponded to the typical bcr1. These results emphasize on the relevance of the correct identification of atypical PML-RAR(alpha) rearrangements because of the potential implications in leukemogenesis, in the response to treatment, and for the correct monitoring of minimal residual disease.
