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-α ( 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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Bibliographic Details
Published in:Molecular diagnosis & therapy 2010-04, Vol.14 (2), p.113-117
Main Authors: Jezíšková, Ivana, Rázga, Filip, Gazdová, Jana, Doubek, Michael, Jurček, Tomáš, Kořístek, Zdeněk, Mayer, Jiří, Dvořáková, Dana
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Cancer
Cancer Research
Care and treatment
Case Report
Cell receptors
Diagnosis
Gene therapy
Genetic aspects
Genetic transcription
Human Genetics
Laboratory Medicine
Methods
Molecular Medicine
Myelocytic leukemia
Nonlymphoid leukemia
Pharmacotherapy
Physiological aspects
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Summary:Acute promyelocytic leukemia (APL) with atypical breakpoints in the promyelocytic leukemia ( PML ) and retinoic acid receptor-α ( 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.
ISSN:1177-1062
1179-2000
DOI:10.1007/BF03256361