{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:10:27Z","timestamp":1791317427165,"version":"4.3.1"},"reference-count":38,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T00:00:00Z","timestamp":1699401600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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\u2019s 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.<\/jats:p>","DOI":"10.3390\/genes14112055","type":"journal-article","created":{"date-parts":[[2023,11,9]],"date-time":"2023-11-09T03:42:08Z","timestamp":1699501328000},"page":"2055","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9079-9175","authenticated-orcid":false,"given":"Eugenio","family":"Sangiorgi","sequence":"first","affiliation":[{"name":"Sezione di Medicina Genomica, Dipartimento di Scienze della Vita e Sanit\u00e0 Pubblica, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Giannuzzi","sequence":"additional","affiliation":[{"name":"Ocular Oncology Unit, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clelia","family":"Molinario","sequence":"additional","affiliation":[{"name":"Division of Anatomic Pathology and Histology, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Rapari","sequence":"additional","affiliation":[{"name":"Sezione di Medicina Genomica, Dipartimento di Scienze della Vita e Sanit\u00e0 Pubblica, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melania","family":"Riccio","sequence":"additional","affiliation":[{"name":"Sezione di Medicina Genomica, Dipartimento di Scienze della Vita e Sanit\u00e0 Pubblica, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Cuffaro","sequence":"additional","affiliation":[{"name":"Ocular Oncology Unit, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Castri","sequence":"additional","affiliation":[{"name":"Division of Anatomic Pathology and Histology, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Benvenuto","sequence":"additional","affiliation":[{"name":"Division of Anatomic Pathology and Histology, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7410-8351","authenticated-orcid":false,"given":"Maurizio","family":"Genuardi","sequence":"additional","affiliation":[{"name":"Sezione di Medicina Genomica, Dipartimento di Scienze della Vita e Sanit\u00e0 Pubblica, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Roma, Italy"},{"name":"UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli-IRCCS, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5688-5923","authenticated-orcid":false,"given":"Daniela","family":"Massi","sequence":"additional","affiliation":[{"name":"Section of Pathology, Department of Health Sciences, University of Florence, 50121 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9993-5986","authenticated-orcid":false,"given":"Gustavo","family":"Savino","sequence":"additional","affiliation":[{"name":"Ocular Oncology Unit, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,11,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1097\/ICU.0000000000000505","article-title":"Current Review of Sebaceous Cell Carcinoma","volume":"29","author":"Orr","year":"2018","journal-title":"Curr. Opin. Ophthalmol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1177\/107327481602300206","article-title":"Sebaceous Carcinoma of the Eyelid","volume":"23","year":"2016","journal-title":"Cancer Control"},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Huang, Y.-Y., Liang, W.-Y., Tsai, C.-C., Kao, S.-C., Yu, W.-K., Kau, H.-C., and Liu, C.J.-L. (2015). Comparison of the Clinical Characteristics and Outcome of Benign and Malignant Eyelid Tumors: An Analysis of 4521 Eyelid Tumors in a Tertiary Medical Center. 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