Making sense of giant cell lesions of the jaws (GCLJ): lessons learned from next-generation sequencing

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dc.creatorCarolina Cavalieri Gomes
dc.creatorMarina Gonçalves Diniz
dc.creatorVictor Coutinho Bastos
dc.creatorVanessa Fátima Bernardes
dc.creatorRicardo Santiago Gomez
dc.date.accessioned2025-09-05T22:01:36Z
dc.date.accessioned2025-09-08T22:57:02Z
dc.date.available2025-09-05T22:01:36Z
dc.date.issued2020-02
dc.description.sponsorshipCNPq - Conselho Nacional de Desenvolvimento Científico e Tecnológico
dc.description.sponsorshipFAPEMIG - Fundação de Amparo à Pesquisa do Estado de Minas Gerais
dc.format.mimetypepdf
dc.identifier.doihttps://doi.org/10.1002/path.5365
dc.identifier.issn1096-9896
dc.identifier.urihttps://hdl.handle.net/1843/84964
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofJournal of Pathology
dc.rightsAcesso Restrito
dc.subjectReceptor, Fibroblast Growth Factor, type 1
dc.subjectGenes, ras
dc.subjectMitogen-Activated Protein Kinases
dc.subjectNoonan syndrome
dc.subjectBone neoplasms
dc.subjectGranuloma, giant cell
dc.subjectGiant cell tumor of bone
dc.subjectJaw
dc.subjectMutation
dc.subjectGenetics
dc.subjectTherapeutics
dc.subject.otherFGFR1
dc.subject.otherJaffe-Campanacci syndrome
dc.subject.otherKRAS
dc.subject.otherMAPK
dc.subject.otherNoonan syndrome
dc.subject.otherTRPV4
dc.subject.otherBone tumor
dc.subject.otherCancer landscaping effects
dc.subject.otherGiant cell granuloma
dc.subject.otherGiant cell tumor of the bone
dc.subject.otherNon-ossifying fibroma
dc.titleMaking sense of giant cell lesions of the jaws (GCLJ): lessons learned from next-generation sequencing
dc.typeArtigo de periódico
local.citation.epage133
local.citation.issue2
local.citation.spage126
local.citation.volume250
local.description.resumoNext-generation sequencing has revealed mutations in several bone-related lesions and was recently used to uncover the genetic basis of giant cell lesions of the jaws (GCLJ). Consistent with their benign nature, GCLJ show a low tumor mutation burden. They also harbor somatic, heterozygous, mutually exclusive mutations in TRPV4, KRAS, or FGFR1. These signature mutations occur only in a subset of lesional cells, suggesting the existence of a 'landscaping effect', with mutant cells inducing abnormal accumulation of non-mutant cells that form the tumor mass. Osteoclast-rich lesions with histological similarities to GCLJ can occur in the jaws sporadically or in association with genetically inherited syndromes. Based on recent results, the pathogenesis of a subgroup of sporadic GCLJ seems closely related to non-ossifying fibroma of long bones, with both lesions sharing MAPK pathway-activating mutations. In this review, we extrapolate from these recent findings to contextualize GCLJ genetics and we highlight the therapeutic implications of this new information. © 2019 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
local.identifier.orcidhttps://orcid.org/0000-0003-1580-4995
local.identifier.orcidhttps://orcid.org/0000-0002-4212-1172
local.identifier.orcidhttps://orcid.org/0000-0003-0360-4179
local.identifier.orcidhttps://orcid.org/0000-0003-0194-7434
local.identifier.orcidhttps://orcid.org/0000-0001-8770-8009
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://pathsocjournals.onlinelibrary.wiley.com/doi/10.1002/path.5365

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