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Real-time tests of multiple genome alterations take the first steps into the clinic: a learning example

Molecular characterization is increasingly changing clinical practice, in both diagnosis and treatment. BRAF is a proto-oncogene that is mutated in ~2%–4% of lung cancers, but the incidence rises to 40%–45% among papillary thyroid cancers. Furthermore, BRAF is a promising target in lung cancer treat...

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Autores principales: Gerratana, Lorenzo, De Maglio, Giovanna, De Pellegrin, Alessandro, Follador, Alessandro, Rihawi, Karim, Pizzolitto, Stefano, Puglisi, Fabio, Fasola, Gianpiero
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5012847/
https://www.ncbi.nlm.nih.gov/pubmed/27621653
http://dx.doi.org/10.2147/OTT.S104748
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author Gerratana, Lorenzo
De Maglio, Giovanna
De Pellegrin, Alessandro
Follador, Alessandro
Rihawi, Karim
Pizzolitto, Stefano
Puglisi, Fabio
Fasola, Gianpiero
author_facet Gerratana, Lorenzo
De Maglio, Giovanna
De Pellegrin, Alessandro
Follador, Alessandro
Rihawi, Karim
Pizzolitto, Stefano
Puglisi, Fabio
Fasola, Gianpiero
author_sort Gerratana, Lorenzo
collection PubMed
description Molecular characterization is increasingly changing clinical practice, in both diagnosis and treatment. BRAF is a proto-oncogene that is mutated in ~2%–4% of lung cancers, but the incidence rises to 40%–45% among papillary thyroid cancers. Furthermore, BRAF is a promising target in lung cancer treatment. The present case study covers both the challenges of molecular differential diagnosis and the perspectives opened by targeted therapy by discussing the history of a 78-year-old female affected by a papillary histotype carcinoma with BRAF mutation associated with both thyroid and lung localizations. A differential diagnosis was possible as a consequence of a multidisciplinary approach including an in-depth molecular characterization. Based on this molecular feature, the patient was successfully treated with the BRAF inhibitor dabrafenib after the failure of treatment with standard regimen. To the best of our knowledge, this is the first published case of non-small-cell lung cancer with metastasis to thyroid and with BRAF V600E mutation.
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spelling pubmed-50128472016-09-12 Real-time tests of multiple genome alterations take the first steps into the clinic: a learning example Gerratana, Lorenzo De Maglio, Giovanna De Pellegrin, Alessandro Follador, Alessandro Rihawi, Karim Pizzolitto, Stefano Puglisi, Fabio Fasola, Gianpiero Onco Targets Ther Case Report Molecular characterization is increasingly changing clinical practice, in both diagnosis and treatment. BRAF is a proto-oncogene that is mutated in ~2%–4% of lung cancers, but the incidence rises to 40%–45% among papillary thyroid cancers. Furthermore, BRAF is a promising target in lung cancer treatment. The present case study covers both the challenges of molecular differential diagnosis and the perspectives opened by targeted therapy by discussing the history of a 78-year-old female affected by a papillary histotype carcinoma with BRAF mutation associated with both thyroid and lung localizations. A differential diagnosis was possible as a consequence of a multidisciplinary approach including an in-depth molecular characterization. Based on this molecular feature, the patient was successfully treated with the BRAF inhibitor dabrafenib after the failure of treatment with standard regimen. To the best of our knowledge, this is the first published case of non-small-cell lung cancer with metastasis to thyroid and with BRAF V600E mutation. Dove Medical Press 2016-08-30 /pmc/articles/PMC5012847/ /pubmed/27621653 http://dx.doi.org/10.2147/OTT.S104748 Text en © 2016 Gerratana et al. This work is published and licensed by Dove Medical Press Limited The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.
spellingShingle Case Report
Gerratana, Lorenzo
De Maglio, Giovanna
De Pellegrin, Alessandro
Follador, Alessandro
Rihawi, Karim
Pizzolitto, Stefano
Puglisi, Fabio
Fasola, Gianpiero
Real-time tests of multiple genome alterations take the first steps into the clinic: a learning example
title Real-time tests of multiple genome alterations take the first steps into the clinic: a learning example
title_full Real-time tests of multiple genome alterations take the first steps into the clinic: a learning example
title_fullStr Real-time tests of multiple genome alterations take the first steps into the clinic: a learning example
title_full_unstemmed Real-time tests of multiple genome alterations take the first steps into the clinic: a learning example
title_short Real-time tests of multiple genome alterations take the first steps into the clinic: a learning example
title_sort real-time tests of multiple genome alterations take the first steps into the clinic: a learning example
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5012847/
https://www.ncbi.nlm.nih.gov/pubmed/27621653
http://dx.doi.org/10.2147/OTT.S104748
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