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Statements

Subject Item
n2:RIV%2F65269705%3A_____%2F10%3A%230000924%21RIV11-MZ0-65269705
rdf:type
n4:Vysledek skos:Concept
dcterms:description
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. 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.
dcterms:title
A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene
skos:prefLabel
A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene
skos:notation
RIV/65269705:_____/10:#0000924!RIV11-MZ0-65269705
n3:aktivita
n15:V n15:Z
n3:aktivity
V, Z(MSM0021622430)
n3:cisloPeriodika
2
n3:dodaniDat
n13:2011
n3:domaciTvurceVysledku
n9:5759080 n9:4585623 n9:4500970 n9:4376285 n9:5378605 n9:3004880 n9:1248790
n3:druhVysledku
n16:J
n3:duvernostUdaju
n12:S
n3:entitaPredkladatele
n7:predkladatel
n3:idSjednocenehoVysledku
244476
n3:idVysledku
RIV/65269705:_____/10:#0000924
n3:jazykVysledku
n17:eng
n3:klicovaSlova
promyelocytic leukemia
n3:klicoveSlovo
n11:promyelocytic%20leukemia
n3:kodStatuVydavatele
NL - Nizozemsko
n3:kontrolniKodProRIV
[388B902D5044]
n3:nazevZdroje
Molecular diagnosis and therapy
n3:obor
n5:FD
n3:pocetDomacichTvurcuVysledku
7
n3:pocetTvurcuVysledku
8
n3:rokUplatneniVysledku
n13:2010
n3:svazekPeriodika
14
n3:tvurceVysledku
Jurček, Tomáš Kořístek, Zdeněk Doubek, Michael Ježíšková, Ivana Dvořáková, Dana Mayer, Jiří Rázga, Filip
n3:wos
000277721300007
n3:zamer
n6:MSM0021622430
s:issn
1177-1062
s:numberOfPages
5