Odontogenic tumors are rare lesions with unknown etiopathogenesis. Most of them are benign, but local aggressiveness, infiltrative potential, and high recurrence rate characterize some entities. The MAP-kinase pathway activation can represent a primary critical event in odontogenic tumorigenesis. Especially, the BRAF V600E mutation has been involved in 80–90% of ameloblastic lesions, offering a biological rationale for developing new targeted therapies. The study aims to evaluate the BRAF V600E mutation in odontogenic lesions, comparing three different detection methods and focusing on the Sequenom MassARRAY System. 81 surgical samples of odontogenic lesions were subjected to immunohistochemical analysis, Sanger Sequencing, and Matrix-Assisted Laser Desorption/Ionization-Time of Flight mass spectrometry (Sequenom). The BRAF V600E mutation was revealed only in ameloblastoma samples. Moreover, the presence of BRAF V600E was significantly associated with the mandibular site (ρ = 0.627; P value <0.001) and the unicystic histotype (ρ = 0.299, P value <0.001). However, any significant difference of 10-years disease-free survival time was not revealed. Finally, Sequenom showed to be a 100% sensitive and 98.1% specific, suggesting its high-performance diagnostic accuracy. These results suggest the MAP-kinase pathway could contribute to ameloblastic tumorigenesis. Moreover, they could indicate the anatomical specificity of the driving mutations of mandibular ameloblastomas, providing a biological rational for developing new targeted therapies. Finally, the high diagnostic accuracy of Sequenom was confirmed.

牙源性肿瘤是病因不明的罕见病变。它们中的大多数是良性的，但局部侵袭性、浸润潜力和高复发率是一些实体的特征。MAP-激酶途径激活可以代表牙源性肿瘤发生中的主要关键事件。尤其是 80-90% 的成釉细胞病变涉及 BRAF V600E 突变，为开发新的靶向治疗提供了生物学依据。该研究旨在评估牙源性病变中的 BRAF V600E 突变，比较三种不同的检测方法并重点关注 Sequenom MassARRAY 系统。对牙源性病变的 81 个手术样本进行了免疫组织化学分析、Sanger 测序和基质辅助激光解吸/电离飞行时间质谱 (Sequenom)。BRAF V600E 突变仅在成釉细胞瘤样本中发现。此外，BRAF V600E 的存在与下颌部位显着相关（ρ = 0.627；P值 <0.001）和单囊组织型（ρ = 0.299，P值 <0.001）。然而，没有发现10年无病生存时间的任何显着差异。最后，Sequenom 显示出 100% 的敏感性和 98.1% 的特异性，表明其具有高性能的诊断准确性。这些结果表明 MAP 激酶途径可能有助于成釉细胞肿瘤的发生。此外，它们可以表明下颌骨成釉细胞瘤驱动突变的解剖学特异性，为开发新的靶向治疗提供生物学依据。最后证实了Sequenom的高诊断准确性。