Genome sequencing reveals molecular subgroups in oral epithelial dysplasia

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dc.coverageDOI: 10.1590/1807-3107BOR-2023.VOL37.0063
dc.creatorMárquez, Agustín
dc.creatorMujica Valenzuela, Isidora Andrea
dc.creatorJordan, Natalia
dc.creatorBaez, Pablo
dc.creatorTarquinio, Sandra
dc.creatorSantos, Jean Nunes Dos
dc.creatorAdorno-Farias, Daniela
dc.creatorMartínez, Benjamín
dc.creatorMorales-Pison, Sebastián
dc.creatorFernandez-Ramires, Ricardo
dc.date2023
dc.date.accessioned2025-11-18T19:50:19Z
dc.date.available2025-11-18T19:50:19Z
dc.descriptionThis study aimed to analyze the molecular characteristics of oral epithelial dysplasia (OED), highlighting the pathways and variants of genes that are frequently mutated in oral squamous cell carcinoma (OSCC) and other cancers. Ten archival OED cases were retrieved for retrospective clinicopathological analysis and exome sequencing. Comparative genomic analysis was performed between high-grade dysplasia (HGD) and low-grade dysplasia (LGD), focusing on 57 well-known cancer genes, of which 10 were previously described as the most mutated in OSCC. HGD cases had significantly more variants; however, a similar mutational landscape to OSCC was observed in both groups. CASP8+FAT1/HRAS, TP53, and miscellaneous molecular signatures were also present. FAT1 is the gene that is most affected by pathogenic variants. Hierarchical divisive clustering showed division between the two groups: “HGD-like cluster” with 4HGD and 2LGD and “LGD-like cluster” with 4 LGD. MLL4 pathogenic variants were exclusively in the “LGD-like cluster”. TP53 was affected in one case of HGD; however, its pathway was usually altered. We describe new insights into the genetic basis of epithelial malignant transformation by genomic analysis, highlighting those associated with FAT1 and TP53. Some LGDs presented a similar mutational landscape to HGD after cluster analysis. Perhaps molecular alterations have not yet been reflected in histomorphology. The relative risk of malignant transformation in this molecular subgroup should be addressed in future studies.eng
dc.identifierhttps://investigadores.uandes.cl/en/publications/be39f5dc-5dc4-433b-aab9-cc21b0aaeb1e
dc.identifier.urihttps://repositorio.uandes.cl/handle/uandes/56557
dc.languageeng
dc.rightsinfo:eu-repo/semantics/openAccess
dc.sourcevol.37 (2023) p.1-15
dc.subjectCarcinoma in Situ
dc.subjectHigh-Throughput Nucleotide Sequencing
dc.subjectMolecular Sequence Annotation
dc.subjectMouth Neoplasms
dc.subjectMutation
dc.subjectPrecancerous Conditions
dc.subjectSDG 3 - Good Health and Well-being
dc.titleGenome sequencing reveals molecular subgroups in oral epithelial dysplasiaeng
dc.typeArticleeng
dc.typeArtículospa
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