Identification of two atypical PML-RAR(alpha) transcripts in two patients with acute promyelocytic leukemia

Leukemia Research
E BarragánM A Sanz

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.

References

Jun 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·M AlcalayP G Pelicci
Jul 27, 2001·British Journal of Haematology·M GonzálezUNKNOWN Spanish Programme for the Study and Treatment of Haematological Malignancies (PETHEMA) Group

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Citations

Apr 12, 2014·Expert Review of Hematology·Etienne De BraekeleerMarc De Braekeleer
Jun 14, 2015·American Journal of Clinical Pathology·Kathryn Foucar, John Anastasi
Jun 25, 2008·British Journal of Haematology·Natalia CenfraGiuseppe Cimino
Nov 14, 2018·Genes, Chromosomes & Cancer·Licia IaccarinoFrancesco Lo-Coco

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