dc.contributor.author |
Zentainé Patócs, Barbara |
|
dc.contributor.author |
Németh, Krisztina |
|
dc.contributor.author |
Garami, Miklós |
|
dc.contributor.author |
Arató, Gabriella |
|
dc.contributor.author |
Kovalszky, Ilona |
|
dc.contributor.author |
Szendrői, Miklós |
|
dc.contributor.author |
Fekete, György |
|
dc.date.accessioned |
2017-03-27T10:35:10Z |
|
dc.date.available |
2017-03-27T10:35:10Z |
|
dc.date.issued |
2012 |
|
dc.identifier |
84870059514 |
|
dc.identifier.citation |
pagination=1112-1118;
journalVolume=65;
journalIssueNumber=12;
journalTitle=JOURNAL OF CLINICAL PATHOLOGY; |
|
dc.identifier.uri |
http://repo.lib.semmelweis.hu//handle/123456789/4118 |
|
dc.identifier.uri |
doi:10.1136/jclinpath-2012-201154 |
|
dc.description.abstract |
AIMS: The localisation of the translocation breakpoint of the Ewing sarcoma family of tumours shows significant variability on relatively large regions of fusion partner genes. As a consequence, many alternative forms of EWSR1-ETS translocation exist which make the RNA-based molecular diagnostics of Ewing sarcoma family of tumours complicated. In addition to the heterogeneity of fusion transcripts, the degradation of RNA also presents a significant difficulty in the molecular analysis of formalin-fixed paraffin-embedded (FFPE) tissues. Our aim was to establish a sensitive method which is able to identify all combinatorially possible EWSR1-FLI1 and EWSR1-ERG translocation transcripts in FFPE tissue samples despite significant RNA-degradation. METHODS: The combination of fluorescent multiplex PCR with laser-induced capillary electrophoresis was used to detect and identify EWSR1-FLI1 and EWSR1-ERG chimeric transcripts on the basis of amplicon size, and forward primers labelled by distinct fluorophores. RESULTS: Using this method, we processed 60 FFPE samples of Ewing sarcoma family of tumours, and identified six types EWSR1-FLI1 and one type EWSR1-ERG chimeric transcripts acceptable for RT-PCR analysis in 27 out of 45 samples. This result shows 60% sensitivity for detecting the most frequent Ewing family of tumour (EFT)-related fusion transcripts. CONCLUSIONS: The utilisation of fluorescent multiplex PCR and laser-induced fluorescent capillary electrophoresis is effective for the diagnosis of EFT in FFPE tissue, and after the defined modifications it can offer a sensitive method to overcome the diagnostic difficulties connected with heterogeneity of the variant translocations in EFT. |
|
dc.relation.ispartof |
urn:issn:0021-9746 |
|
dc.title |
Utilisation of fluorescent multiplex PCR and laser-induced capillary electrophoresis for the diagnosis of Ewing family of tumours in formalin-fixed paraffin-embedded tissues. |
|
dc.type |
Journal Article |
|
dc.date.updated |
2017-03-14T09:45:47Z |
|
dc.language.rfc3066 |
en |
|
dc.identifier.mtmt |
2095232 |
|
dc.identifier.wos |
000311277700011 |
|
dc.identifier.pubmed |
23015660 |
|
dc.contributor.department |
SE/AOK/I/I. Sz. Patológiai és Kísérleti Rákkutató Intézet |
|
dc.contributor.department |
SE/AOK/K/II. Sz. Gyermekgyógyászati Klinika |
|
dc.contributor.department |
SE/AOK/K/Ortopédiai Klinika |
|
dc.contributor.institution |
Semmelweis Egyetem |
|