Cargando…
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...
Autores principales: | , , , , , , , , , , |
---|---|
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 |
_version_ | 1785140173861814272 |
---|---|
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. |
format | Online Article Text |
id | pubmed-10671510 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT sangiorgieugenio baseexcisionrepairmutationalsignatureintwosebaceouscarcinomasoftheeyelid AT giannuzzifederico baseexcisionrepairmutationalsignatureintwosebaceouscarcinomasoftheeyelid AT molinarioclelia baseexcisionrepairmutationalsignatureintwosebaceouscarcinomasoftheeyelid AT raparigiulia baseexcisionrepairmutationalsignatureintwosebaceouscarcinomasoftheeyelid AT ricciomelania baseexcisionrepairmutationalsignatureintwosebaceouscarcinomasoftheeyelid AT cuffarogiovanni baseexcisionrepairmutationalsignatureintwosebaceouscarcinomasoftheeyelid AT castrifederica baseexcisionrepairmutationalsignatureintwosebaceouscarcinomasoftheeyelid AT benvenutoroberta baseexcisionrepairmutationalsignatureintwosebaceouscarcinomasoftheeyelid AT genuardimaurizio baseexcisionrepairmutationalsignatureintwosebaceouscarcinomasoftheeyelid AT massidaniela baseexcisionrepairmutationalsignatureintwosebaceouscarcinomasoftheeyelid AT savinogustavo baseexcisionrepairmutationalsignatureintwosebaceouscarcinomasoftheeyelid |