Matsuo Mioko, Kuga Ryosuke, Manako Tomomi, Hashimoto Kazuki, Kogo Ryunosuke, Sato Masanobu, Nakagawa Takashi
Department of Otorhinolaryngology, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-Ku, Fukuoka, 812-8582, Japan.
J Med Case Rep. 2025 May 6;19(1):210. doi: 10.1186/s13256-025-05224-z.
Sinonasal ameloblastic tumors exhibit unique clinical, pathological, and genetic traits distinct from mandibular bone cases, accounting for the majority of ameloblastic tumors. Recent findings emphasize a notable genetic disparity, showing high BRAF mutation rates in mandibular cases versus very low rates in maxillary cases.
We analyzed five sinonasal ameloblastic tumor cases treated at Kyushu University Hospital. All patients were Japanese, four male and one female, and their age ranged from 43 to 73 years. Three were diagnosed with ameloblastoma, with one experiencing recurrence that progressed to a life-threatening condition owing to the lack of effective treatment. One patient was histologically diagnosed as ameloblastic carcinoma, and another patient, although histologically diagnosed as ameloblastoma, presented with lymph node metastasis, confirming it as a metastasizing ameloblastoma with clinical malignancy. Local radical resection was performed in all five patients; however, three of them had positive resection margins, and two received postoperative (chemotherapy) radiation therapy. Recurrence was confirmed in two patients, with one patient undergoing chemoradiation therapy and achieving local control. BRAF mutations were detected in only one patient.
Owing to anatomical challenges in achieving negative resection margins and the low BRAF mutation frequency, sinonasal ameloblastic tumors exhibit poor prognosis with high recurrence, malignancy, and metastasis rates. When factors predicting recurrence post-radical resection in these tumors are identified, chemoradiation therapy is recommended as an adjuvant postoperative treatment. However, it should be noted that this presentation of adjuvant therapy is based on the experience of only five cases.
鼻窦成釉细胞瘤具有独特的临床、病理和遗传特征，与下颌骨病例不同，占成釉细胞瘤的大多数。最近的研究结果强调了显著的遗传差异，显示下颌骨病例中BRAF突变率高，而上颌骨病例中突变率极低。
我们分析了九州大学医院治疗的5例鼻窦成釉细胞瘤病例。所有患者均为日本人，4名男性和1名女性，年龄在43至73岁之间。3例被诊断为成釉细胞瘤，其中1例复发，由于缺乏有效治疗进展为危及生命的状况。1例患者经组织学诊断为成釉细胞癌，另1例患者尽管经组织学诊断为成釉细胞瘤，但出现淋巴结转移，证实为具有临床恶性的转移性成釉细胞瘤。所有5例患者均进行了局部根治性切除；然而，其中3例切除边缘阳性，2例接受了术后（化疗）放疗。2例患者复发，1例接受放化疗并实现局部控制。仅1例患者检测到BRAF突变。
由于在实现阴性切除边缘方面存在解剖学挑战以及BRAF突变频率低，鼻窦成釉细胞瘤预后较差，复发、恶性和转移率高。当确定这些肿瘤根治性切除术后预测复发的因素时，建议放化疗作为术后辅助治疗。然而，应注意的是，这种辅助治疗的介绍仅基于5例病例的经验。
