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Search for new genetic biomarkers in poorly differentiated and anaplastic thyroid carcinomas using next generation sequencing
V. Sykorova, S. Dvorakova, J. Vcelak, E. Vaclavikova, T. Halkova, D. Kodetova, P. Lastuvka, J. Betka, P. Vlcek, M. Reboun, R. Katra, B. Bendlova,
Jazyk angličtina Země Řecko
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
NT13901
MZ0
CEP - Centrální evidence projektů
Digitální knihovna NLK
Plný text - Článek
Zdroj
NLK
Free Medical Journals
od 2004 do Před 2 roky
Open Access Digital Library
od 2004-01-01
PubMed
25862857
Knihovny.cz E-zdroje
- MeSH
- anaplastický karcinom štítné žlázy genetika patologie MeSH
- buněčná diferenciace genetika MeSH
- fosfatidylinositol-3-kinasy genetika MeSH
- fosfohydroláza PTEN genetika MeSH
- lidé MeSH
- mutace MeSH
- nádorové biomarkery genetika izolace a purifikace MeSH
- nádorové proteiny genetika MeSH
- nádory štítné žlázy genetika patologie MeSH
- protoonkogenní proteiny B-raf genetika MeSH
- vysoce účinné nukleotidové sekvenování MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
BACKGROUND: Poorly differentiated thyroid carcinoma (PDTC) and anaplastic thyroid carcinoma (ATC) are very rare tumors with extremely aggressive behavior. Their comprehensive genetic background is still unclear. Some of the main genetic changes of differentiated thyroid carcinomas, such as mutations in BRAF and RAS genes, as well as changes in CTNNB1, PIK3CA, TP53, AXIN1, PTEN or APC genes leading to the dedifferentiation of the tumors, are described. MATERIALS AND METHODS: DNAs from fresh frozen thyroid tissues of 3 PDTCs and 5 ATCs were extracted. The next-generation sequencing (NGS) approach was used to target 94 genes involved in cancer. The samples were prepared using a TruSight Cancer panel and sequenced with a MiSeq sequencer. Analysis of variants was performed by the MiSeq Reporter and NextGENe software and stringent criteria for prioritization of the variants were used in the Illumina VariantStudio software. RESULTS: Using NGS, we identified 26 genetic changes in 18 genes, novel variants included. CONCLUSION: NGS is a useful tool for searching for new variants and genes involved in PDTC and ATC. It seems that each of these rare tumor types has its own specific genetic background. These data could be helpful for recognizing new genetic markers and targets for future personalized therapy.
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- $a Sýkorová, Vlasta $u Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic vsykorova@endo.cz. $7 xx0118026
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- $a BACKGROUND: Poorly differentiated thyroid carcinoma (PDTC) and anaplastic thyroid carcinoma (ATC) are very rare tumors with extremely aggressive behavior. Their comprehensive genetic background is still unclear. Some of the main genetic changes of differentiated thyroid carcinomas, such as mutations in BRAF and RAS genes, as well as changes in CTNNB1, PIK3CA, TP53, AXIN1, PTEN or APC genes leading to the dedifferentiation of the tumors, are described. MATERIALS AND METHODS: DNAs from fresh frozen thyroid tissues of 3 PDTCs and 5 ATCs were extracted. The next-generation sequencing (NGS) approach was used to target 94 genes involved in cancer. The samples were prepared using a TruSight Cancer panel and sequenced with a MiSeq sequencer. Analysis of variants was performed by the MiSeq Reporter and NextGENe software and stringent criteria for prioritization of the variants were used in the Illumina VariantStudio software. RESULTS: Using NGS, we identified 26 genetic changes in 18 genes, novel variants included. CONCLUSION: NGS is a useful tool for searching for new variants and genes involved in PDTC and ATC. It seems that each of these rare tumor types has its own specific genetic background. These data could be helpful for recognizing new genetic markers and targets for future personalized therapy.
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