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Not the same thing: metastatic PTCs have a different background than ATCs

Anaplastic thyroid cancer (ATC) is a rare but highly aggressive form of thyroid cancer. By contrast, differentiated papillary thyroid cancer (PTC) only rarely behave aggressively and develop distant metastasis. Whether distantly metastatic PTC (DM-PTC) and ATC share a common genetic background is st...

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Autores principales: de Biase, Dario, Torricelli, Federica, Ragazzi, Moira, Donati, Benedetta, Kuhn, Elisabetta, Visani, Michela, Acquaviva, Giorgia, Pession, Annalisa, Tallini, Giovanni, Piana, Simonetta, Ciarrocchi, Alessia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280609/
https://www.ncbi.nlm.nih.gov/pubmed/30400028
http://dx.doi.org/10.1530/EC-18-0386
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author de Biase, Dario
Torricelli, Federica
Ragazzi, Moira
Donati, Benedetta
Kuhn, Elisabetta
Visani, Michela
Acquaviva, Giorgia
Pession, Annalisa
Tallini, Giovanni
Piana, Simonetta
Ciarrocchi, Alessia
author_facet de Biase, Dario
Torricelli, Federica
Ragazzi, Moira
Donati, Benedetta
Kuhn, Elisabetta
Visani, Michela
Acquaviva, Giorgia
Pession, Annalisa
Tallini, Giovanni
Piana, Simonetta
Ciarrocchi, Alessia
author_sort de Biase, Dario
collection PubMed
description Anaplastic thyroid cancer (ATC) is a rare but highly aggressive form of thyroid cancer. By contrast, differentiated papillary thyroid cancer (PTC) only rarely behave aggressively and develop distant metastasis. Whether distantly metastatic PTC (DM-PTC) and ATC share a common genetic background is still to be defined. We used next-generation sequencing (NGS) to explore the genetic background of a cohort of ATC and DM-PTC and a group of well-differentiated PTCs that did not developed distant metastasis as control (ctrl-PTC). A panel of 128 amplicons within 21 thyroid cancer-related genes was analyzed in a set of 151 thyroid cancer samples including 66 ATCs and DM-PTCs. We showed that the ATC/DM-PTC group had an overall mutational load higher than ctrl-PTCs and that ATCs and DM-PTCs are characterized by a different genetic background, with the exception of mutations in the TERT promoter that were overrepresented in both ATCs (61.1%) and DM-PTCs (48.2%) vs non-aggressive ctrl-PTCs (7.6%). In ATCs, TERT promoter mutations were frequently associated with TP53 mutations, while in the DM-PTCs no significant co-occurrence was observed. No significant association of MED12 mutations with aggressiveness of thyroid cancer was observed in our analysis. Finally, correlation analysis showed that increasing number of mutations negatively impact on patient overall survival also within the ATC and DM-PTC group. In conclusions, overall our analysis further highlights the relevance of TERT promoter mutations in driving aggressiveness and provides new pieces of information in the definition of aggressiveness evolution of thyroid cancer lesions.
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spelling pubmed-62806092018-12-10 Not the same thing: metastatic PTCs have a different background than ATCs de Biase, Dario Torricelli, Federica Ragazzi, Moira Donati, Benedetta Kuhn, Elisabetta Visani, Michela Acquaviva, Giorgia Pession, Annalisa Tallini, Giovanni Piana, Simonetta Ciarrocchi, Alessia Endocr Connect Research Anaplastic thyroid cancer (ATC) is a rare but highly aggressive form of thyroid cancer. By contrast, differentiated papillary thyroid cancer (PTC) only rarely behave aggressively and develop distant metastasis. Whether distantly metastatic PTC (DM-PTC) and ATC share a common genetic background is still to be defined. We used next-generation sequencing (NGS) to explore the genetic background of a cohort of ATC and DM-PTC and a group of well-differentiated PTCs that did not developed distant metastasis as control (ctrl-PTC). A panel of 128 amplicons within 21 thyroid cancer-related genes was analyzed in a set of 151 thyroid cancer samples including 66 ATCs and DM-PTCs. We showed that the ATC/DM-PTC group had an overall mutational load higher than ctrl-PTCs and that ATCs and DM-PTCs are characterized by a different genetic background, with the exception of mutations in the TERT promoter that were overrepresented in both ATCs (61.1%) and DM-PTCs (48.2%) vs non-aggressive ctrl-PTCs (7.6%). In ATCs, TERT promoter mutations were frequently associated with TP53 mutations, while in the DM-PTCs no significant co-occurrence was observed. No significant association of MED12 mutations with aggressiveness of thyroid cancer was observed in our analysis. Finally, correlation analysis showed that increasing number of mutations negatively impact on patient overall survival also within the ATC and DM-PTC group. In conclusions, overall our analysis further highlights the relevance of TERT promoter mutations in driving aggressiveness and provides new pieces of information in the definition of aggressiveness evolution of thyroid cancer lesions. Bioscientifica Ltd 2018-10-30 /pmc/articles/PMC6280609/ /pubmed/30400028 http://dx.doi.org/10.1530/EC-18-0386 Text en © 2018 The authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (http://creativecommons.org/licenses/by-nc-nd/4.0/) .
spellingShingle Research
de Biase, Dario
Torricelli, Federica
Ragazzi, Moira
Donati, Benedetta
Kuhn, Elisabetta
Visani, Michela
Acquaviva, Giorgia
Pession, Annalisa
Tallini, Giovanni
Piana, Simonetta
Ciarrocchi, Alessia
Not the same thing: metastatic PTCs have a different background than ATCs
title Not the same thing: metastatic PTCs have a different background than ATCs
title_full Not the same thing: metastatic PTCs have a different background than ATCs
title_fullStr Not the same thing: metastatic PTCs have a different background than ATCs
title_full_unstemmed Not the same thing: metastatic PTCs have a different background than ATCs
title_short Not the same thing: metastatic PTCs have a different background than ATCs
title_sort not the same thing: metastatic ptcs have a different background than atcs
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280609/
https://www.ncbi.nlm.nih.gov/pubmed/30400028
http://dx.doi.org/10.1530/EC-18-0386
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