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

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.

• Authors: Eva Barragán, Pascual Bolufer, Guillermo Martín, José Cervera, Isabel Moreno, Francisco J Capote, Pedro Rosique, Miguel A Sanz
• Journal: Leukemia research (Leuk Res) Vol. 26 Issue 5 Pg. 439-42 (May 2002) ISSN: 0145-2126 [Print] England
• PMID: 11916515 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Neoplasm Proteins
• Oncogene Proteins, Fusion
• RNA, Messenger
• promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein

Topics

• Adult
• Base Sequence
• Gene Rearrangement
• Humans
• Leukemia, Promyelocytic, Acute (genetics)
• Male
• Middle Aged
• Molecular Sequence Data
• Neoplasm Proteins (genetics)
• Oncogene Proteins, Fusion (genetics)
• RNA, Messenger (analysis)
• Reverse Transcriptase Polymerase Chain Reaction