A new TRPV4 mutation in a case of multiple central giant cell granulomas of the jaws

Página do item simplificado
dc.creatorLetícia Martins Guimarães
dc.creatorRoberta Rayra Martins-Chaves
dc.creatorPriscila Quintino Chabot
dc.creatorWillem Hans Schreuder
dc.creatorWagner Henriques de Castro
dc.creatorRicardo Santiago Gomez
dc.creatorCarolina Cavaliéri Gomes
dc.date.accessioned2025-05-29T21:14:54Z
dc.date.accessioned2025-09-08T23:13:29Z
dc.date.available2025-05-29T21:14:54Z
dc.date.issued2023-03
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.format.mimetypepdf
dc.identifier.doihttps://doi.org/10.1016/j.oooo.2022.10.005
dc.identifier.issn2212-4411
dc.identifier.urihttps://hdl.handle.net/1843/82637
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofOral Surgery Oral Medicine Oral Pathology Oral Radiology
dc.rightsAcesso Restrito
dc.subjectGranuloma, giant cell
dc.subjectMutation
dc.subjectReceptor, fibroblast growth factor, type 1
dc.subjectGenes
dc.subjectRAF kinases
dc.subjectMAP kinase kinase kinases
dc.subjectRAS proteins
dc.titleA new TRPV4 mutation in a case of multiple central giant cell granulomas of the jaws
dc.typeArtigo de periódico
local.citation.epagee73
local.citation.issue3
local.citation.spagee68
local.citation.volume135
local.description.resumoSporadic central giant cell granulomas of the jaws (GCGJ) are often solitary lesions, characterized by KRAS, FGFR1, and TRPV4 somatic mutations. Multifocal lesions may occur and are associated with hyperparathyroidism or underlying syndromes such as cherubism, which is marked by SH3BP2 mutations, and RASopathies, which are caused by mutations in the FGFR-RAS-RAF-MEK-ERK signaling cascade. The diagnosis of multiple GCGJ can be challenging. The present case reports a 14-year-old boy with multiple central GCGJ and no obvious syndromic trait. Sanger sequencing-based analysis revealed wild-type sequences for SH3BP2 (exon 9), KRAS (exons 2-4), and FGFR1 (exons 9 and 10) genes. A rare TRPV4 somatic mutation (p.Val708Met) was detected in the lesion on the right side of the mandible, whereas the other tumor and the normal oral mucosa revealed wild-type TRPV4 sequences. This report expands the spectrum of TRPV4 somatic mutations in central GCGJ.
local.identifier.orcidhttps://orcid.org/0000-0002-1022-0336
local.identifier.orcidhttps://orcid.org/0000-0001-6182-9232
local.identifier.orcidhttps://orcid.org/0009-0005-3879-0700
local.identifier.orcidhttps://orcid.org/0000-0003-0944-4356
local.identifier.orcidhttps://orcid.org/0000-0003-2745-2878
local.identifier.orcidhttps://orcid.org/0000-0001-8770-8009
local.identifier.orcidhttps://orcid.org/0000-0003-1580-4995
local.publisher.countryBrasil
local.publisher.departmentFAO - DEPARTAMENTO DE CLÍNICA
local.publisher.departmentICB - DEPARTAMENTO DE MORFOLOGIA
local.publisher.departmentICB - DEPARTAMENTO DE PATOLOGIA
local.publisher.initialsUFMG
local.url.externahttps://www.sciencedirect.com/science/article/pii/S2212440322011816?via%3Dihub

Arquivos

Licença do pacote

Agora exibindo 1 - 1 de 1
Imagem de Miniatura
Nome:
License.txt
Tamanho:
1.99 KB
Formato:
Plain Text
Descrição:
Baixar

Coleções

Artigo de Periódico

Logo UFMG