A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene
Acute promyelocytic leukemia (APL) with atypical breakpoints in the promyelocytic leukemia (PML) and retinoic acid receptor-alpha (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 AP...
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| Veröffentlicht in: | Molecular diagnosis & therapy 2010-04, Vol.14 (2), p.113 |
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| creator | Jezísková, Ivana Rázga, Filip Gazdová, Jana Doubek, Michael Jurcek, Tomás Korístek, Zdenek Mayer, Jirí Dvoráková, Dana |
| description | Acute promyelocytic leukemia (APL) with atypical breakpoints in the promyelocytic leukemia (PML) and retinoic acid receptor-alpha (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 with 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 from fusion of PML exon 4 and a truncated form of transcription variant 2 of the RARA gene, with an additional 9 bp insertion. According to our knowledge, this differs from all previously described fusion transcripts. |
| doi_str_mv | 10.2165/11317400-000000000-00000 |
| format | Article |
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Here we report on a patient with APL with 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 from fusion of PML exon 4 and a truncated form of transcription variant 2 of the RARA gene, with an additional 9 bp insertion. 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| subjects | Base Sequence Electrophoresis, Agar Gel Humans Male Middle Aged Molecular Sequence Data Oncogene Proteins, Fusion - genetics Protein Isoforms - genetics Receptors, Retinoic Acid - genetics Retinoic Acid Receptor alpha RNA, Messenger - genetics RNA, Messenger - metabolism Transcription, Genetic |
| title | A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene |
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