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Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid

Personalized medicine aims to develop tailored treatments for individual patients based on specific mutations present in the affected organ. This approach has proven paramount in cancer treatment, as each tumor carries distinct driver mutations that respond to targeted drugs and, in some cases, may...

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Autores principales: Sangiorgi, Eugenio, Giannuzzi, Federico, Molinario, Clelia, Rapari, Giulia, Riccio, Melania, Cuffaro, Giovanni, Castri, Federica, Benvenuto, Roberta, Genuardi, Maurizio, Massi, Daniela, Savino, Gustavo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671510/
https://www.ncbi.nlm.nih.gov/pubmed/38002998
http://dx.doi.org/10.3390/genes14112055
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author Sangiorgi, Eugenio
Giannuzzi, Federico
Molinario, Clelia
Rapari, Giulia
Riccio, Melania
Cuffaro, Giovanni
Castri, Federica
Benvenuto, Roberta
Genuardi, Maurizio
Massi, Daniela
Savino, Gustavo
author_facet Sangiorgi, Eugenio
Giannuzzi, Federico
Molinario, Clelia
Rapari, Giulia
Riccio, Melania
Cuffaro, Giovanni
Castri, Federica
Benvenuto, Roberta
Genuardi, Maurizio
Massi, Daniela
Savino, Gustavo
author_sort Sangiorgi, Eugenio
collection PubMed
description Personalized medicine aims to develop tailored treatments for individual patients based on specific mutations present in the affected organ. This approach has proven paramount in cancer treatment, as each tumor carries distinct driver mutations that respond to targeted drugs and, in some cases, may confer resistance to other therapies. Particularly for rare conditions, personalized medicine has the potential to revolutionize treatment strategies. Rare cancers often lack extensive datasets of molecular and pathological information, large-scale trials for novel therapies, and established treatment guidelines. Consequently, surgery is frequently the only viable option for many rare tumors, when feasible, as traditional multimodal approaches employed for more common cancers often play a limited role. Sebaceous carcinoma of the eyelid is an exceptionally rare cancer affecting the eye’s adnexal tissues, most frequently reported in Asia, but whose prevalence is significantly increasing even in Europe and the US. The sole established curative treatment is surgical excision, which can lead to significant disfigurement. In cases of metastatic sebaceous carcinoma, validated drug options are currently lacking. In this project, we set out to characterize the mutational landscape of two sebaceous carcinomas of the eyelid following surgical excision. Utilizing available bioinformatics tools, we demonstrated our ability to identify common features promptly and accurately in both tumors. These features included a Base-Excision Repair mutational signature, a notably high tumor mutational burden, and key driver mutations in somatic tissues. These findings had not been previously reported in similar studies. This report underscores how, in the case of rare tumors, it is possible to comprehensively characterize the mutational landscape of each individual case, potentially opening doors to targeted therapeutic options.
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spelling pubmed-106715102023-11-08 Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid Sangiorgi, Eugenio Giannuzzi, Federico Molinario, Clelia Rapari, Giulia Riccio, Melania Cuffaro, Giovanni Castri, Federica Benvenuto, Roberta Genuardi, Maurizio Massi, Daniela Savino, Gustavo Genes (Basel) Article Personalized medicine aims to develop tailored treatments for individual patients based on specific mutations present in the affected organ. This approach has proven paramount in cancer treatment, as each tumor carries distinct driver mutations that respond to targeted drugs and, in some cases, may confer resistance to other therapies. Particularly for rare conditions, personalized medicine has the potential to revolutionize treatment strategies. Rare cancers often lack extensive datasets of molecular and pathological information, large-scale trials for novel therapies, and established treatment guidelines. Consequently, surgery is frequently the only viable option for many rare tumors, when feasible, as traditional multimodal approaches employed for more common cancers often play a limited role. Sebaceous carcinoma of the eyelid is an exceptionally rare cancer affecting the eye’s adnexal tissues, most frequently reported in Asia, but whose prevalence is significantly increasing even in Europe and the US. The sole established curative treatment is surgical excision, which can lead to significant disfigurement. In cases of metastatic sebaceous carcinoma, validated drug options are currently lacking. In this project, we set out to characterize the mutational landscape of two sebaceous carcinomas of the eyelid following surgical excision. Utilizing available bioinformatics tools, we demonstrated our ability to identify common features promptly and accurately in both tumors. These features included a Base-Excision Repair mutational signature, a notably high tumor mutational burden, and key driver mutations in somatic tissues. These findings had not been previously reported in similar studies. This report underscores how, in the case of rare tumors, it is possible to comprehensively characterize the mutational landscape of each individual case, potentially opening doors to targeted therapeutic options. MDPI 2023-11-08 /pmc/articles/PMC10671510/ /pubmed/38002998 http://dx.doi.org/10.3390/genes14112055 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Sangiorgi, Eugenio
Giannuzzi, Federico
Molinario, Clelia
Rapari, Giulia
Riccio, Melania
Cuffaro, Giovanni
Castri, Federica
Benvenuto, Roberta
Genuardi, Maurizio
Massi, Daniela
Savino, Gustavo
Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid
title Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid
title_full Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid
title_fullStr Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid
title_full_unstemmed Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid
title_short Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid
title_sort base-excision repair mutational signature in two sebaceous carcinomas of the eyelid
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671510/
https://www.ncbi.nlm.nih.gov/pubmed/38002998
http://dx.doi.org/10.3390/genes14112055
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