Background: Ameloblastoma is a rare odontogenic tumor with an aggressive local behavior. Mutations in the mitogen-activated protein kinase (MAPK) pathway, namely BRAF V600E mutations, are a common finding. To date there is no clear correlation between BRAF V600 mutation and clinical outcome. Methods: We retrospectively reviewed records of all patients undergoing surgery for ameloblastoma between February 2017 and March 2019 at 11 participating Italian centers. The primary endpoints of the study were to determine the BRAF mutational status in primitive and relapsed ameloblastoma, and to assess the relapse free interval (RFI); the secondary endpoint was to investigate the correlation of BRAF mutational status with clinical characteristics and survival outcomes. Results: Overall, 74 patients were included: 33 (44.5%) were BRAF wild type and 41 (55.4%) BRAFV600 mutated. BRAFV600 mutated ameloblastomas were more frequently in younger patients (p=0.0031), located at mandible site (p=0.0009), and with unicystic histotype. After a median follow up of 60 months, 21 (28.3%) patients relapsed (30.3% and 26.8% of in the BRAF wild type and BRAF mutated cases, respectively). At univariable Cox models, none of the analyzed variables, including microscopic margin involvement, appeared to be correlated with RFI. Conclusions: Local recurrence occurs in 30% of patients with ameloblastoma. BRAFV600 mutation is associated with younger age, a mandible site of the disease and with unicystic histotype. Neither BRAF mutation nor microscopic involved margins are associated with RFI. Further studies are needed to elucidate outcomes of this rare disease according to clinical, histopathological and comprehensive molecular features.

Correlation of BRAF mutational status with clinical characteristics and survival outcomes of patients with ameloblastoma: the experience of 11 Italian centres

Giordana Bettini
Data Curation
;
Giorgia Saia
Data Curation
;
Alberto Bedogni
Writing – Review & Editing
;
2021

Abstract

Background: Ameloblastoma is a rare odontogenic tumor with an aggressive local behavior. Mutations in the mitogen-activated protein kinase (MAPK) pathway, namely BRAF V600E mutations, are a common finding. To date there is no clear correlation between BRAF V600 mutation and clinical outcome. Methods: We retrospectively reviewed records of all patients undergoing surgery for ameloblastoma between February 2017 and March 2019 at 11 participating Italian centers. The primary endpoints of the study were to determine the BRAF mutational status in primitive and relapsed ameloblastoma, and to assess the relapse free interval (RFI); the secondary endpoint was to investigate the correlation of BRAF mutational status with clinical characteristics and survival outcomes. Results: Overall, 74 patients were included: 33 (44.5%) were BRAF wild type and 41 (55.4%) BRAFV600 mutated. BRAFV600 mutated ameloblastomas were more frequently in younger patients (p=0.0031), located at mandible site (p=0.0009), and with unicystic histotype. After a median follow up of 60 months, 21 (28.3%) patients relapsed (30.3% and 26.8% of in the BRAF wild type and BRAF mutated cases, respectively). At univariable Cox models, none of the analyzed variables, including microscopic margin involvement, appeared to be correlated with RFI. Conclusions: Local recurrence occurs in 30% of patients with ameloblastoma. BRAFV600 mutation is associated with younger age, a mandible site of the disease and with unicystic histotype. Neither BRAF mutation nor microscopic involved margins are associated with RFI. Further studies are needed to elucidate outcomes of this rare disease according to clinical, histopathological and comprehensive molecular features.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11577/3387998
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