Xeroderma pigmentosum variant: squamous cell carcinoma of the lower lip harboring exon 11 mutation of POLH

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dc.creatorThaís dos Santos Fontes Pereira
dc.creatorLigia Pereira Castro
dc.creatorCarlos Frederico Martins Menck
dc.creatorMaria Helena Thomaz Maia
dc.creatorLucas Lacerda de Souza
dc.creatorFelipe Paiva Fonseca
dc.creatorHelder Antônio Rebelo Pontes
dc.creatorFlavia Sirotheau Correa Pontes
dc.creatorRicardo Santiago Gomez
dc.date.accessioned2023-12-15T19:40:32Z
dc.date.accessioned2025-09-09T00:49:07Z
dc.date.available2023-12-15T19:40:32Z
dc.date.issued2021-09
dc.identifier.doihttps://doi.org/10.1016/j.oooo.2021.03.013
dc.identifier.issn22124403
dc.identifier.urihttps://hdl.handle.net/1843/62039
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofOral surgery oral medicine oral pathology oral radiology
dc.rightsAcesso Restrito
dc.subjectXeroderma pigmentosum
dc.subjectDNA
dc.subjectCarcinoma, squamous cell
dc.subjectNucleotides
dc.subjectGenes
dc.subjectLip
dc.subjectNeoplasms
dc.subject.othercarcinoma de células escamosas de boca
dc.subject.otherBIOLOGIA MOLECULAR
dc.subject.otheracesso restrito fao clínica busca dia 20 do 11 ano 2023 Xeroderma pigmentosum variant: squamous cell carcinoma of the lower lip harboring exon 11 mutation of polh assunto Xeroderma Pigmentosum
dc.subject.othertítulo periódico: Oral surgery oral medicine oral pathology oral radiology
dc.titleXeroderma pigmentosum variant: squamous cell carcinoma of the lower lip harboring exon 11 mutation of POLH
dc.typeArtigo de periódico
local.citation.spage4601
local.citation.volume132
local.description.resumoXeroderma 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.
local.publisher.countryBrasil
local.publisher.departmentFAO - DEPARTAMENTO DE CLÍNICA
local.publisher.initialsUFMG
local.url.externahttps://www.sciencedirect.com/science/article/pii/S2212440321001632?via%3Dihub

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