Genetic Study of BRAF V600E and SMO L412F Mutations in Japanese Patients with Ameloblastoma

Background and aim: Ameloblastoma is a benign, intraosseous, progressively growing, epithelial, odontogenic neoplasm. BRAF and SMO mutations have been reported in ameloblastoma. In this study, we evaluated BRAF V600E and SMO L412F mutations; and assessed the relationship between BRAF V600E mutant expression and the clinicopathological features in Japanese patients with ameloblastoma. Methods: We examined 24 formalin-fixed paraffin-embedded samples. All specimens were from patients with mandibular ameloblastoma: 20 were conventional ameloblastoma and 4 were unicystic ameloblastoma. The BRAF V600E mutation was assessed by Sanger sequencing and immunohistochemistry, and the SMO L412F mutation was assessed only by Sanger sequencing. Results: Twenty of the 24 (83%) ameloblastoma samples carried the BRAF V600E mutation; 22 of the 24 (92%) samples were immunohistochemically positive for BRAF V600E. However, the SMO L412F mutation was not detected in any of them. The BRAF V600E mutation status did not correlate with the clinicopathological features, such as age, sex, location, method, recurrence, and subtype. Conclusion: BRAF inhibitors could be a potential treatment option for Japanese patients with ameloblastoma, harboring the BRAF V600E mutation.

Immunohistochemical Expression of MMP-9 and E-Cadherin in subtypes of Ameloblastoma

Background & Objective: Ameloblastomas have been analyzed histologically for diagnostics and its sub-classification; however, the analysis carried out so far does not provide any authentic evidence regarding prognosis of Ameloblastoma. Subject categorization is still a topic of debate. The purpose of this study was to determine the immuno-expression of markers such as MMP-9 and E-Cadherin in different sub-types of ameloblastoma and establish their correlation with histological variants. Methods: Analytical study of 71 cases of ameloblastoma was conducted in AFIP Rawalpindi, between January to June, 2019. Samples were taken from different intraoral sites including the patients with tumor of ameloblast. The tumor was sub classified histologically on the basis of WHO classification. ‘Chi Square’ Test was applied to find the association of MMP-9 and E-Cadherin with histological variants of ameloblastoma. P-value ≤ 0.05 were found statistically significant. Results: On histopathological sub-classification, 52.1% were diagnosed as follicular type, 23.9% were plexiform type, 14.1% were Acanthomatous type and 9.9% were of unicystic ameloblastoma. 80% of the total Acanthomatous type and 59% of the total plexiform had strong immuno-expression, which was significantly different from follicular type MMP-9 (p ≤ 0.05). All cases of unicystic ameloblastoma and 67.6% of follicular type showed strong immuno-expression significantly different from 20% of Acanthomatous type and 59% of plexiform type E-Cadherin (p ≥ 0.05). On the other hand, when statistical analysis was carried out, an inverse relation between MMP-9 and E-cadherin was observed. Conclusion: The effect of MMP-9 and E-cadherin in ameloblastoma is aggressive in nature and effectiveness was seen in subtypes of ameloblastoma. doi: https://doi.org/10.12669/pjms.38.1.4465 How to cite this:Farhan F, Niazi Z, Masood S, Abbas B. Immunohistochemical Expression of MMP-9 and E-Cadherin in subtypes of Ameloblastoma. Pak J Med Sci. 2022;38(1):---------. doi: https://doi.org/10.12669/pjms.38.1.4465 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Unicystic Ameloblastoma in a 9-year-old Child Treated with a Combination of Conservative Surgery and Orthodontic Treatment: A Case Report

a 9-year-old girl with UAM of the mandible, which also involved the impaction of the first and second premolars. Marsupialization with orthodontic treatment was performed to shrink the lesion and upright the first premolar involved in the tumor. Ten months after marsupialization, the lesion was completely healed.

Unicystic Ameloblastoma of Mandible: A Case Report

Ameloblastoma is a neoplasm that originates from odontogenic epithelium. It is the second most common neoplasm of the oral cavity. Unicystic ameloblastomas refer to those cystic lesions that show clinical, radiographic, or gross features of a jaw cyst, but on histologic examination show a typical ameloblastomatous epithelium lining part of the cyst cavity, with or without luminal and/ or mural growth. Even though the lesion is not that aggressive as the solid ameloblastoma, an accurate diagnosis should be made. This lesion needs to be treated more aggressively than any other periapical lesions.

Conservative Management of Unicystic Ameloblastoma: A Case Report

Ameloblastoma is a rare benign tumor of odontogenic origin with local invasive characteristics and a high recurrence rate. Depending upon the location, size and the subtype of Ameloblastoma, surgical treatments, such as marginal or segmental resection, have traditionally been implemented, but some conservative surgical methods are also being introduced, including decompression, enucleation, or curettage. We are presenting a case of 35 years male with Ameloblastoma of his right body of the mandible. Presentation of the case, Surgical workup, and management are discussed.

Utilization of cell proliferation markers to diagnose cystic jaw pathologies

Markers of cell proliferation are widely used as diagnostic and prognostic tools. Coincident estimation of these markers increases the precise evaluation of the proliferative status of different tissues and can also be helpful in determining progression, aggressiveness and prognosis of the lesions. The current study investigated the expression of PCNA and MCM3 cell proliferation markers in 40 formalin fixed paraffin embedded tissue blocks of odontogenic keratocyst (OKC) and unicystic ameloblastoma (UA) cases using immunohistochemistry method. Markers` expression based on the intensity, percentage of positively stained cells and localization of reaction through the cyst lining epithelium was separately analyzed for each marker using Chi square test, the results of which were significant for the two markers (P < 0.05). Both markers revealed statistically significant differences between OKC and UA cases regarding markers expression intensity, positivity score and localization of reaction through the epithelium. Mural UA histologic variant was significantly different than luminal and intraluminal variants. The correlation coefficient between the two markers was found to be 0.86.

Giant unicystic ameloblastoma of maxilla-successful endoscopic management

<p>This 32-year-old male patient presented with complaints of restricted mouth opening and gross facial asymmetry owing to the massive jaw swelling on the right side. After a thorough examination, a diagnosis of unicystic ameloblastoma of maxilla. Although, the standard of care surgical approach was through Weber-Fergusson incision, a concerted attempt to excise the tumour with the minimally invasive endoscopic route was made successfully. The patient was symptom free now with complete resolution of swelling on a regular follow up post operatively. This case report highlighted the modern day protocol of organ preservation concepts in surgical management of a rare tumour in otolaryngology practice</p>