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.
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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)
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Chemical References |
- Neoplasm Proteins
- Oncogene Proteins, Fusion
- RNA, Messenger
- promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein
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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
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