| JEŽÍŠKOVÁ, Ivana, Filip RÁZGA, J. GAZDOVÁ, Michael DOUBEK, Tomáš JURČEK, Zdeněk KOŘÍSTEK, Jiří MAYER a Dana DVOŘÁKOVÁ. A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene. Molecular diagnosis and therapy. roč. 14, č. 2, s. 113-117. ISSN 1177-1062. 2010. |
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@article{879868,
author = {Ježíšková, Ivana and Rázga, Filip and Gazdová, J. and Doubek, Michael and Jurček, Tomáš and Kořístek, Zdeněk and Mayer, Jiří and Dvořáková, Dana},
article_number = {2},
keywords = {APL; PML; RARA; atypical fusion transcript},
language = {eng},
issn = {1177-1062},
journal = {Molecular diagnosis and therapy},
title = {A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene},
volume = {14},
year = {2010}
}
TY - JOUR
ID - 879868
AU - Ježíšková, Ivana - Rázga, Filip - Gazdová, J. - Doubek, Michael - Jurček, Tomáš - Kořístek, Zdeněk - Mayer, Jiří - Dvořáková, Dana
PY - 2010
TI - A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene
JF - Molecular diagnosis and therapy
VL - 14
IS - 2
SP - 113-117
EP - 113-117
SN - 11771062
KW - APL
KW - PML
KW - RARA
KW - atypical fusion transcript
N2 - Acute promyelocytic leukemia (APL) with atypical breakpoints in the promyelocytic leukemia (PML) and retinoic acid receptor-alfa (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 eith 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 bfrom fusion of PML exon 4 and a truncated form of transcription variant 2 of the RARA gene, with an additional 9bp insertion. According to our knowledge, this differs from all previously described fusion transcripts.
ER -
JEŽÍŠKOVÁ, Ivana, Filip RÁZGA, J. GAZDOVÁ, Michael DOUBEK, Tomáš JURČEK, Zdeněk KOŘÍSTEK, Jiří MAYER a Dana DVOŘÁKOVÁ. A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene. \textit{Molecular diagnosis and therapy}. roč.~14, č.~2, s.~113-117. ISSN~1177-1062. 2010.
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