Clinical benefit and radiological response with BRAF inhibitor in a patient with recurrent ameloblastoma harboring V600E mutation

Fernandes, Gwendolyn; Girardi, Daniel M.; Bernardes, João Paulo Giacomini; Fonseca, Felipe Paiva; Fregnani, Eduardo Rodrigues

doi:10.1186/s12885-018-4802-y

Cited by 53 publications

(58 citation statements)

References 16 publications

(35 reference statements)

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“…Besides, three cases with BRAF V600E mutation showed a successful response to BRAF inhibitors ( 18 - 20 ). It seems that BRAF inhibitors can have clinical benefits and responses in recurrent and metastatic ameloblastomas and use as neoadjuvant and/or targeted adjuvant therapy to improve the treatment outcome, especially in locally advanced ameloblastomas ( 21 , 22 ). Although new molecular medicine demonstrates personalized targeted therapy for ameloblastoma, it seems that based on lack of large scale clinical trials, evaluation of the wide clinical application of BRAF inhibitors has a long way.…”

Section: Discussionmentioning

confidence: 99%

High frequency of BRAF V600E mutation in Iranian population ameloblastomas

Derakhshan¹,

Aminishakib²,

Karimi³

et al. 2020

Med Oral

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Background Ameloblastoma is a common locally invasive but slow-growing neoplasm of the jaws with an odontogenic origin. Association between BRAF V600E mutation and clinicopathologic features and behavior of ameloblastoma remains controversial. This study aimed to evaluate BRAF V600E gene mutation and expression of its related proteins with clinicopathologic parameters in conventional ameloblastoma. Material and Methods 50 Formalin-fixed paraffin-embedded blocks were included in this study. Immunohistochemistry was done using rabbit monoclonal BRAF V600E mutation-specific antibody VE1. Quantitative real-time polymerase chain reaction assay was used for evaluating of BRAF V600E mutation. Results Expression of BRAF V600E antibody was Positive in 42 out of 50 cases (84%). 46 (92%) out of 50 specimens showed BRAF V600E mutation. There were 13 cases of recurrence (26%). 3 out of 4 cases with negative mutations did not show recurrence. Conclusions We report the highest frequency (92%) of BRAF V600E mutation in ameloblastomas in the Iranian population. Although there was not a significant association between BRAF V600E‑positive immunoexpression and recurrence and clinicopathologic parameters, its high frequency could emphasize its role as a therapeutic marker in the future. Key words: Conventional ameloblastoma, BRAF V600E, recurrence.

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Section: Discussionmentioning

confidence: 99%

High frequency of BRAF V600E mutation in Iranian population ameloblastomas

Derakhshan¹,

Aminishakib²,

Karimi³

et al. 2020

Med Oral

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“…Brief overview of recent studies concerning the BRAF mutation in ameloblastoma tolerance to vemurafenib after 11 months of therapy 32. These findings demonstrated the vital clinical significance of BRAF V600E mutation and the efficacy of the mutation inhibitors for AM treatment.…”

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confidence: 91%

Advancements in MAPK signaling pathways and MAPK‐targeted therapies for ameloblastoma: A review

You

Liu

et al. 2019

J Oral Pathology Medicine

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Numerous signal transduction pathways are closely associated with the occurrence, development, and prognosis of ameloblastoma (AM). Mitogen‐activated protein kinase (MAPK) is a serine/threonine‐specific protein kinase that transduces intracellular signals in critical cellular phenomena. A number of recent analyses have reported that the MAPK signaling pathway contributes significantly to AM. High‐throughput DNA sequencing methods, such as next‐generation sequencing using Illumina have yielded advancements in studies on MAPK signaling pathways and their association with AM; in particular, BRAF V600E is mediated by the activation of the Ras/Raf/MAPK pathway. This review discusses advancements in studies on MAPK signaling pathways and MAPK‐targeted inhibitors or antibodies, along with the merits and demerits of MAPK‐targeted therapies, finally followed by a discussion regarding more efficient potential MAPK‐targeted therapies to treat AM with few side effects, thereby providing novel insights into targeted therapy for AM.

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“…7 The BRAF V600E mutation has been used as a diagnostic and predictive biomarker in various types of tumors such as colorectal cancer. [8][9][10][13][14][15] The frequency of BRAF V600E mutation has been reported as 62%-63% in patients with ameloblastoma, 13 whereas this the mutation is rare in other odontogenic tumors. 16 Therefore, the detection of BRAF V600E mutation in the present case genetically supported the preoperative diagnosis of ameloblastoma.…”

Section: -Discussionmentioning

confidence: 99%