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Search for new genetic biomarkers in poorly differentiated and anaplastic thyroid carcinomas using next generation
Vlasta Sykorova1, Sarka Dvorakova2, Josef Vcelak2
1Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic vsykorova@endo.cz.
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.
Insights
Next-generation sequencing (NGS) identified 26 genetic alterations in 18 genes for poorly differentiated thyroid carcinoma (PDTC) and anaplastic thyroid carcinoma (ATC). These findings may reveal new genetic markers for personalized thyroid cancer therapy.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Poorly differentiated thyroid carcinoma (PDTC) and anaplastic thyroid carcinoma (ATC) are rare, aggressive thyroid cancers with unclear genetic underpinnings.
- Known genetic alterations in differentiated thyroid carcinomas, such as BRAF, RAS, CTNNB1, PIK3CA, TP53, AXIN1, PTEN, and APC mutations, are implicated in tumor dedifferentiation.
Purpose of the Study:
- To investigate the comprehensive genetic background of PDTC and ATC.
- To identify novel genetic variants and potential therapeutic targets in these rare thyroid cancers.
Main Methods:
- DNA extraction from fresh frozen thyroid tissues of 3 PDTC and 5 ATC samples.
- Next-generation sequencing (NGS) targeting 94 cancer-associated genes using a TruSight Cancer panel.
- Variant analysis using MiSeq Reporter, NextGENe, and Illumina VariantStudio software with stringent prioritization criteria.
Main Results:
- NGS analysis revealed a total of 26 genetic alterations across 18 genes in the studied PDTC and ATC samples.
- The identified genetic changes included novel variants, contributing to the understanding of these rare tumors' molecular landscape.
Conclusions:
- NGS is an effective tool for discovering new genetic variants and genes associated with PDTC and ATC.
- Each rare thyroid tumor type appears to possess a distinct genetic profile.
- The identified genetic alterations could serve as biomarkers for future personalized treatment strategies in thyroid cancer.
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