A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F10%3A00043735" target="_blank" >RIV/00216224:14110/10:00043735 - isvavai.cz</a>

Alternative codes found

RIV/65269705:_____/10:#0000924

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene

Original language 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 exon4 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.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FD - Oncology and haematology

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2010

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Molecular diagnosis and therapy

ISSN

1177-1062

e-ISSN

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Volume of the periodical

14

Issue of the periodical within the volume

2

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

5

Pages from-to

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UT code for WoS article

000277721300007

EID of the result in the Scopus database

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