Xeroderma pigmentosum variant: squamous cell carcinoma of the lower lip harboring exon 11 mutation of POLH
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Universidade Federal de Minas Gerais
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Artigo de periódico
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Membros da banca
Resumo
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.
Abstract
Assunto
Xeroderma pigmentosum, DNA, Carcinoma, squamous cell, Nucleotides, Genes, Lip, Neoplasms
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carcinoma de células escamosas de boca, BIOLOGIA MOLECULAR, acesso 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, título periódico: Oral surgery oral medicine oral pathology oral radiology
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https://www.sciencedirect.com/science/article/pii/S2212440321001632?via%3Dihub