一例疑似 BRAF p.V600E 基因突变的下颌骨发展型牙瘤病例

IF 0.4 Q4 DENTISTRY, ORAL SURGERY & MEDICINE
Atsuko Niki-Yonekawa , Yoshihiro Morita , Yukiko Kusuyama , Yoshio Ueno , Ayano Nishimoto , Motoko Shintani , Nobuo Morita , Narikazu Uzawa
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引用次数: 0

摘要

牙髓纤维瘤(AFO)是一种罕见的良性混合性牙源性肿瘤,由细胞外胚层中增生的牙源性上皮组成,并形成包括牙釉质和牙本质在内的牙齿硬组织。根据 2017 年世界卫生组织头颈部肿瘤分类,AFO 不再被定义为一个独立的实体,而是发育中牙瘤(DOD)中观察到的一系列组织学变化的一部分。尽管如此,人们认为这一分类并不适用于2017年之前诊断为AFO的所有病变,其中一些病变具有BRAF p.V600E突变的肿瘤特征。我们报告了一例8岁女孩下颌骨后部的DOD病例。手术切除在全身麻醉下进行。该病例是根据详细的临床、放射学和组织病理学分析确诊的。此外,通过免疫组化分析还怀疑存在 BRAF p.V600E 突变。BRAF 突变检测有助于准确诊断牙体瘤的真正肿瘤性质。在本病例中,手术后至少 11 个月才出现复发。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A case of developing odontoma of the mandible with suspected BRAF p.V600E mutation

Ameloblastic fibro-odontoma (AFO) is a rare benign mixed odontogenic tumor composed of proliferating odontogenic epithelium in a cellular ectomesenchyme with the formation of dental hard tissues, including enamel and dentin. According to the 2017 WHO Classification of Head and Neck Tumours, AFO is no longer defined as an independent entity but as part of a series of histological changes observed in a developing odontoma (DOD). Nevertheless, it is believed that this classification does not apply to all lesions diagnosed as AFO before 2017, some of which have neoplastic characteristics with BRAF p.V600E mutation. We report a case of DOD in the posterior mandible of an 8-year-old girl. Surgical excision was performed under general anesthesia. This case was diagnosed based on detailed clinical, radiological, and histopathological analyses. In addition, the mutant BRAF p.V600E was suspected by immunohistochemical analysis. BRAF mutation detection may contribute to accurately diagnosing the true neoplastic nature in odontomas. In the present case, no recurrence was observed until at least 11 months after surgery.

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CiteScore
0.80
自引率
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129
审稿时长
83 days
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