KRAS mutations in brown tumor of the jaws in hyperparathyroidism

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dc.creatorLetícia Martins Guimarães
dc.creatorRomán Carlos
dc.creatorAdalberto Mosqueda-Taylor
dc.creatorRonell Bologna-Molina
dc.creatorFabricio Passador-Santos
dc.creatorRicardo Santiago Gomez
dc.creatorCarolina Cavaliéri Gomes
dc.creatorIsadora Pereira Gomes
dc.creatorThaís dos Santos Fontes Pereira
dc.creatorBruno Augusto Benevenuto Andrade
dc.creatorMario José Romañach Gonzalez Sobrinho
dc.creatorJúlio César Tanos Lacerda
dc.creatorHélder Antônio Rebelo Pontes
dc.creatorPeter A. Brennan
dc.creatorSiavash Rahimi
dc.date.accessioned2025-09-04T22:05:11Z
dc.date.accessioned2025-09-08T23:56:57Z
dc.date.available2025-09-04T22:05:11Z
dc.date.issued2020-09
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/10.1111/jop.13048
dc.identifier.issn1600-0714
dc.identifier.urihttps://hdl.handle.net/1843/84893
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofJournal of Oral Pathology & Medicine
dc.rightsAcesso Restrito
dc.subjectBone Neoplasms
dc.subjectHyperparathyroidism
dc.subjectMutation
dc.subjectGenes
dc.subjectImmunohistochemistry
dc.subjectJaw, edentulous
dc.subject.otherMAPK/ERK pathway
dc.subject.otherBone tumor
dc.subject.otherGiant cell lesions
dc.subject.otherHyperparathyroidism
dc.subject.otherMutations
dc.titleKRAS mutations in brown tumor of the jaws in hyperparathyroidism
dc.typeArtigo de periódico
local.citation.epage802
local.citation.issue8
local.citation.spage796
local.citation.volume49
local.description.resumoBackground: Brown tumors are giant cell-rich lesions that result from abnormal bone metabolism in hyperparathyroidism, one of the most common endocrine disorders worldwide. Brown tumors occasionally affect the jaws and, despite well-known clinical and microscopic features, their molecular pathogenesis remains unclear. We investigated the presence of pathogenic activating mutations in TRPV4, FGFR1, and KRAS in a cohort of brown tumors since these have recently been reported in giant-cell lesions of the jaws and non-ossifying fibromas of the bones (FGFR1 and KRAS), which are histologic mimics of brown tumors. Methods: We target sequenced 13 brown tumors of the jaws associated with primary or secondary hyperparathyroidism. As mutations in these genes are known to activate the MAPK/ERK signaling pathway, we also assessed the immunostaining of the phosphorylated form of ERK1/2 (pERK1/2) in these lesions. Results: KRAS pathogenic mutations were detected in seven cases (p.G12V n = 4, p.G12D n = 1, p.G13D n = 1, p.A146T n = 1). KRAS variants of unknown significance (VUS), p.A134T and p.E37K, were also detected. All samples showed wild-type sequences for FGFR1 and TRPV4 genes. The activation of the MAPK/ERK signaling pathway was demonstrated by pERK1/2 immunohistochemical positivity of the brown tumors´ mononuclear cells. Conclusion: Mutations in KRAS and activation of the MAPK/ERK signaling pathway were detected in brown tumors of hyperparathyroidism of the jaws, expanding the spectrum of giant cell lesions whose molecular pathogenesis involve RAS signaling.
local.identifier.orcidhttps://orcid.org/0000-0002-1022-0336
local.identifier.orcidhttps://orcid.org/0000-0003-1022-8087
local.identifier.orcidhttps://orcid.org/0000-0001-8956-6016
local.identifier.orcidhttps://orcid.org/0000-0001-9755-4779
local.identifier.orcidhttps://orcid.org/0000-0003-2777-8640
local.identifier.orcidhttps://orcid.org/0000-0001-8770-8009
local.identifier.orcidhttps://orcid.org/0000-0003-1580-4995
local.identifier.orcidhttps://orcid.org/0000-0001-6619-8572
local.identifier.orcidhttps://orcid.org/0000-0002-3259-606X
local.identifier.orcidhttps://orcid.org/0000-0002-7853-5916
local.identifier.orcidhttps://orcid.org/0000-0002-5570-3550
local.identifier.orcidhttps://orcid.org/0000-0002-7609-8804
local.identifier.orcidhttps://orcid.org/0000-0002-8282-1480
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://onlinelibrary.wiley.com/doi/10.1111/jop.13048

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