Kokubun Katsutoshi, Yamamoto Kei, Akashi Yoshihiko, Chujo Takatoshi, Nakajima Kei, Matsuzaka Kenichi
13093Department of Pathology, Tokyo Dental College, Tokyo, Japan.
Int J Surg Pathol. 2022 Jun;30(4):378-384. doi: 10.1177/10668969211064203. Epub 2022 Jan 7.
. Ameloblastoma is a benign, intraosseous, progressively growing, epithelial, odontogenic neoplasm. and mutations have been reported in ameloblastoma. In this study, we evaluated V600E and L412F mutations; and assessed the relationship between V600E mutant expression and the clinicopathological features in Japanese patients with ameloblastoma. . 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 V600E mutation was assessed by Sanger sequencing and immunohistochemistry, and the L412F mutation was assessed only by Sanger sequencing. . Twenty of the 24 (83%) ameloblastoma samples carried the V600E mutation; 22 of the 24 (92%) samples were immunohistochemically positive for BRAF V600E. However, the L412F mutation was not detected in any of them. The V600E mutation status did not correlate with the clinicopathological features, such as age, sex, location, method, recurrence, and subtype. . BRAF inhibitors could be a potential treatment option for Japanese patients with ameloblastoma, harboring the V600E mutation.
成釉细胞瘤是一种良性、骨内、进行性生长的上皮性牙源性肿瘤。已有报道称成釉细胞瘤存在基因突变。在本研究中，我们评估了V600E和L412F突变；并评估了日本成釉细胞瘤患者中V600E突变表达与临床病理特征之间的关系。我们检查了24个福尔马林固定石蜡包埋样本。所有标本均来自下颌成釉细胞瘤患者：20例为传统型成釉细胞瘤，4例为单囊性成釉细胞瘤。通过桑格测序和免疫组织化学评估V600E突变，仅通过桑格测序评估L412F突变。24个成釉细胞瘤样本中有20个（83%）携带V600E突变；24个样本中有22个（92%）BRAF V600E免疫组织化学染色呈阳性。然而，未在任何样本中检测到L412F突变。V600E突变状态与年龄、性别、位置、方法、复发和亚型等临床病理特征无关。BRAF抑制剂可能是日本携带V600E突变的成釉细胞瘤患者的一种潜在治疗选择。
