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http://hdl.handle.net/1843/82461| Type: | Artigo de Periódico |
| Title: | Comprehensive genomic analysis of cemento-ossifying fibroma |
| Authors: | Ricardo Santiago Gomez Ahmed El Mouatani Filipe Fideles Duarte-Andrade Thais dos Santos Fontes Pereira Letícia Martins Guimarães Tenzin Gayden Damien Faury Emily Nakada Sylvie Langlois Daniel Sinnett Wagner Henriques de Castro Marina Gonçalves Diniz Nada Jabado Carolina Cavalieri Gomes |
| Abstract: | Cemento-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. |
| Subject: | RNA-seq Fibroma, ossifying Genetics Exome sequencing Gene Fusion Gene deletion Genes Proteins Chromosomes, human, pair 12 Chromosomes, human, pair 7 |
| language: | eng |
| metadata.dc.publisher.country: | Brasil |
| Publisher: | Universidade Federal de Minas Gerais |
| Publisher Initials: | UFMG |
| metadata.dc.publisher.department: | FAO - FACULDADE DE ODONTOLOGIA |
| Rights: | Acesso Restrito |
| metadata.dc.identifier.doi: | https://doi.org/10.1016/j.modpat.2023.100388 |
| URI: | http://hdl.handle.net/1843/82461 |
| Issue Date: | Feb-2024 |
| metadata.dc.url.externa: | https://www.sciencedirect.com/science/article/pii/S0893395223002934?via%3Dihub |
| metadata.dc.relation.ispartof: | Modern pathology |
| Appears in Collections: | Artigo de Periódico |
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