Goes Cassandra F, Spadigam Anita, Dhupar Anita, Carvalho Karla M, Cota Jochima, Syed Shaheen
Department of Oral and Maxillofacial Pathology, Goa Dental College and Hospital, Bambolim, Goa, India.
Indian J Pathol Microbiol. 2023 Apr-Jun;66(2):246-251. doi: 10.4103/ijpm.ijpm_398_21.
Ameloblastoma is a benign epithelial odontogenic neoplasm that constitutes approximately 1% of all oral tumors and about 9 to 11% of all odontogenic tumors. They are slow-growing, locally invasive, and demonstrate a potential for metastasis and malignant transformation. The molecular pathogenesis of ameloblastoma is attributed to aberrant activity of the signal transduction pathways relating to developmental stages of odontogenesis including the mitogen-activated protein kinase (MAPK) pathway. The BRAF V600E mutation was identified as the most frequently mutated gene in this neoplasm. Studies have shown that use of BRAF inhibitors in patients diagnosed with ameloblastomas led to a significant reduction in tumor volume.
To detect the expression of BRAF V600E mutation in ameloblastomas in an Indian population using immunohistochemistry. To compare the difference in the occurrence of the BRAF V600E mutation between mandibular and maxillary cases.
Thirty-three formalin-fixed paraffin-embedded tissues of histopathologically proven cases of ameloblastoma were assessed for the BRAF V600E mutation by immunohistochemistry using the BRAF V600E monoclonal antibody. Patient data such as age, sex, anatomical site, recurrence were documented.
The statistical analysis was performed using the Pearson Chi-square test and Student's t-test.
The present study revealed a high expression of the BRAFV600E mutation in mandibular cases of ameloblastoma among Indians irrespective of the age, sex, site, recurrence or histological pattern.
The identification of this driver mutation opens the possibility of an adjuvant therapeutic modality to reduce the significant facial disfigurement and morbidity following surgical management.
成釉细胞瘤是一种良性上皮性牙源性肿瘤，约占所有口腔肿瘤的1%，占所有牙源性肿瘤的9%至11%。它们生长缓慢，具有局部侵袭性，并有转移和恶变的可能。成釉细胞瘤的分子发病机制归因于与牙胚发育阶段相关的信号转导通路的异常激活，包括丝裂原活化蛋白激酶（MAPK）通路。BRAF V600E突变被确定为该肿瘤中最常见的突变基因。研究表明，在诊断为成釉细胞瘤的患者中使用BRAF抑制剂可显著减小肿瘤体积。
采用免疫组织化学方法检测印度人群成釉细胞瘤中BRAF V600E突变的表达情况。比较下颌和上颌病例中BRAF V600E突变发生率的差异。
采用BRAF V600E单克隆抗体，通过免疫组织化学方法对33例经组织病理学证实的成釉细胞瘤福尔马林固定石蜡包埋组织进行BRAF V600E突变检测。记录患者的年龄、性别、解剖部位、复发情况等数据。
采用Pearson卡方检验和Student t检验进行统计学分析。
本研究显示，在印度人群中，成釉细胞瘤下颌病例中BRAFV600E突变表达较高，与年龄、性别、部位、复发情况或组织学类型无关。
这种驱动突变的鉴定为辅助治疗模式提供了可能性，以减少手术治疗后严重的面部畸形和发病率。
