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http://hdl.handle.net/1843/62039| Type: | Artigo de Periódico |
| Title: | Xeroderma pigmentosum variant: squamous cell carcinoma of the lower lip harboring exon 11 mutation of POLH |
| Authors: | Thaís dos Santos Fontes Pereira Ligia Pereira Castro Carlos Frederico Martins Menck Maria Helena Thomaz Maia Lucas Lacerda de Souza Felipe Paiva Fonseca Helder Antônio Rebelo Pontes Flavia Sirotheau Correa Pontes Ricardo Santiago Gomez |
| Abstract: | Xeroderma pigmentosum (XP) is a rare inherited disease caused by deficiencies in DNA damage repair, which mainly results from the failure of nucleotide excision repair or defects in translesion DNA synthesis. The development of multiple malignancies is one of the most prominent features of this condition, which is clinically characterized by the occurrence of hyperpigmentation and lesions associated with sunlight exposure. Lip squamous cell carcinoma in patients with XP has rarely been reported, and information regarding the genetic analysis of these patients is limited. In this report, a case of a 20-year-old patient who developed squamous cell carcinoma in the lower lip is described. Although the tumor was surgically excised, the patient presented with recurrence a few months later. Targeted sequencing using a customized panel of DNA repair genes revealed a mutation in POLH, the gene encoding DNA polymerase eta. Therefore, molecular characterization is important to further improve the understanding of possible phenotype-genotype correlations and mechanisms involved in the pathogenesis of XP. |
| Subject: | Xeroderma pigmentosum DNA Carcinoma, squamous cell Nucleotides Genes Lip Neoplasms |
| language: | eng |
| metadata.dc.publisher.country: | Brasil |
| Publisher: | Universidade Federal de Minas Gerais |
| Publisher Initials: | UFMG |
| metadata.dc.publisher.department: | FAO - DEPARTAMENTO DE CLÍNICA |
| Rights: | Acesso Restrito |
| metadata.dc.identifier.doi: | https://doi.org/10.1016/j.oooo.2021.03.013 |
| URI: | http://hdl.handle.net/1843/62039 |
| Issue Date: | Sep-2021 |
| metadata.dc.url.externa: | https://www.sciencedirect.com/science/article/pii/S2212440321001632?via%3Dihub |
| metadata.dc.relation.ispartof: | Oral surgery oral medicine oral pathology oral radiology |
| Appears in Collections: | Artigo de Periódico |
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