牙源性疾病中 、 、 外显子组测序。
Whole Exome Sequencing of , , and in Odontogenic Diseases.
机构信息
Department of Oral and Maxillofacial Surgery, Dokkyo Medical University School of Medicine, Tochigi, Japan.
Department of Oral and Maxillofacial Surgery, Ehime University Graduate School of Medicine, Ehime, Japan.
出版信息
In Vivo. 2020 Nov-Dec;34(6):3233-3240. doi: 10.21873/invivo.12159.
BACKGROUND/AIM: Odontogenic diseases are diagnosed based on clinical course, imaging, and histopathology. However, a definitive diagnosis is not always possible.
PATIENTS AND METHODS
We analyzed whole exons of SMO, BRAF, PTCH1 and GNAS using next-generation sequencing (NGS) in 18 patients.
RESULTS
Of the 6 patients with ameloblastoma, 2 patients had the same missense mutation in BRAF, and 1 patient with peripheral ameloblastoma had a missense mutation in PTCH1. Of the 7 patients with odontogenic keratocyst, 4 patients had a missense mutation in PTCH1, 2 patients had missense mutations in BRAF, and 1 patient had a missense mutation in SMO. The patient with odontoma had missense mutations in SMO, BRAF and PTCH1. One patient with cement-osseous dysplasia had missense mutations in SMO and PTCH1. The patient with adenomatoid odontogenic tumor had missense mutations in SMO.
CONCLUSION
Whole exome sequencing of the above genes by NGS would be useful for the differential diagnosis of odontogenic diseases.
背景/目的：牙源性疾病的诊断基于临床病程、影像学和组织病理学。然而，并非总能做出明确的诊断。
患者和方法
我们对 18 名患者使用下一代测序（NGS）分析了 SMO、BRAF、PTCH1 和 GNAS 的外显子。
结果
在 6 名牙瘤患者中，2 名患者 BRAF 有相同的错义突变，1 名外周性牙瘤患者 PTCH1 有错义突变。在 7 名牙源性角化囊肿患者中，4 名患者 PTCH1 有错义突变，2 名患者 BRAF 有错义突变，1 名患者 SMO 有错义突变。牙瘤患者 SMO、BRAF 和 PTCH1 有错义突变。1 名骨-牙质发育不全患者 SMO 和 PTCH1 有错义突变。腺牙源性肿瘤患者 SMO 有错义突变。
结论
通过 NGS 对上述基因进行全外显子测序有助于牙源性疾病的鉴别诊断。
Zotero 插件