Comprehensive genomic analysis of cemento-ossifying fibroma

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dc.creatorRicardo Santiago Gomez
dc.creatorAhmed El Mouatani
dc.creatorFilipe Fideles Duarte-Andrade
dc.creatorThais dos Santos Fontes Pereira
dc.creatorLetícia Martins Guimarães
dc.creatorTenzin Gayden
dc.creatorDamien Faury
dc.creatorEmily Nakada
dc.creatorSylvie Langlois
dc.creatorDaniel Sinnett
dc.creatorWagner Henriques de Castro
dc.creatorMarina Gonçalves Diniz
dc.creatorNada Jabado
dc.creatorCarolina Cavalieri Gomes
dc.date.accessioned2025-05-22T20:23:18Z
dc.date.accessioned2025-09-09T01:30:22Z
dc.date.available2025-05-22T20:23:18Z
dc.date.issued2024-02
dc.description.sponsorshipCNPq - Conselho Nacional de Desenvolvimento Científico e Tecnológico
dc.description.sponsorshipFAPEMIG - Fundação de Amparo à Pesquisa do Estado de Minas Gerais
dc.description.sponsorshipCAPES - Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
dc.identifier.doihttps://doi.org/10.1016/j.modpat.2023.100388
dc.identifier.issn1530-0285
dc.identifier.urihttps://hdl.handle.net/1843/82461
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofModern pathology
dc.rightsAcesso Restrito
dc.subjectRNA-seq
dc.subjectFibroma, ossifying
dc.subjectGenetics
dc.subjectExome sequencing
dc.subjectGene Fusion
dc.subjectGene deletion
dc.subjectGenes
dc.subjectProteins
dc.subjectChromosomes, human, pair 12
dc.subjectChromosomes, human, pair 7
dc.subject.otherFibro-osseous lesion
dc.subject.otherOssifying fibroma
dc.subject.othergenetics
dc.subject.otherCopy number alteration
dc.subject.otherWhole-exome sequencing
dc.subject.otherRNAseq
dc.subject.otherGene fusions
dc.titleComprehensive genomic analysis of cemento-ossifying fibroma
dc.typeArtigo de periódico
local.citation.issue2
local.citation.spage100388
local.citation.volume37
local.description.resumoCemento-ossifying fibroma (COF) of the jaws is currently classified as a benign mesenchymal odontogenic tumor, and only targeted approaches have been used to assess its genetic alterations. A minimal proportion of COFs harbor CDC73 somatic mutations, and copy number alterations (CNAs) involving chromosomes 7 and 12 have recently been reported in a small proportion of cases. However, the genetic background of COFs remains obscure. We used a combination of whole-exome sequencing and RNA sequencing to assess somatic mutations, fusion transcripts, and CNAs in a cohort of 12 freshly collected COFs. No recurrent fusions have been identified among the 5 cases successfully analyzed by RNA sequencing, with in-frame fusions being detected in 2 cases (MARS1::GOLT1B and PARG::BMS1 in one case and NCLN::FZR1 and NFIC::SAMD1 in the other case) and no candidate fusions identified for the remaining 3 cases. No recurrent pathogenic mutations were detected in the 11 cases that had undergone whole-exome sequencing. A KRAS p.L19F missense variant was detected in one case, and 2 CDC73 deletions were detected in another case. The other variants were of uncertain significance and included variants in PC, ACTB, DOK6, HACE1, and COL1A2 and previously unreported variants in PTPN14, ATP5F1C, APOBEC1, HDAC5, ATF7IP, PARP2, and ACTR3B. The affected genes do not clearly converge on any signaling pathway. CNAs were detected in 5/11 cases (45%), with copy gains involving chromosome 12 occurring in 3/11 cases (27%). In conclusion, no recurrent fusions or pathogenic variants have been detected in the present COF cohort, with copy gains involving chromosome 12 occurring in 27% of cases.
local.identifier.orcidhttps://orcid.org/0000-0001-8770-8009
local.identifier.orcidhttps://orcid.org/0000-0003-4779-5368
local.identifier.orcidhttps://orcid.org/0000-0003-2745-2878
local.identifier.orcidhttps://orcid.org/0000-0002-4212-1172
local.identifier.orcidhttps://orcid.org/0000-0003-2485-3692
local.identifier.orcidhttps://orcid.org/0000-0003-1580-4995
local.identifier.orcidhttps://orcid.org/0000-0003-0776-4380
local.identifier.orcidhttps://orcid.org/0000-0003-0345-0376
local.identifier.orcidhttps://orcid.org/0000-0002-1022-0336
local.identifier.orcidhttps://orcid.org/0000-0002-3028-2593
local.publisher.countryBrasil
local.publisher.departmentFAO - FACULDADE DE ODONTOLOGIA
local.publisher.initialsUFMG
local.url.externahttps://www.sciencedirect.com/science/article/pii/S0893395223002934?via%3Dihub

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