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マツモト ナオユキ
Matsumoto Naoyuki
松本 直行 所属 鶴見大学 歯学部 歯学科 病理学 職種 教授 |
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| 論文種別 | 【査読あり】 研究論文（学術雑誌） |
| 言語種別 | 英語 |
| 査読の有無 | 査読あり |
| 表題 | Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report |
| 掲載誌名 | 正式名：ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTOLOGY ISSNコード：10792104 |
| 出版社 | MOSBY-ELSEVIER |
| 巻・号・頁 | 110(2),pp.E41-E46 |
| 著者・共著者 | Ryo Sasaki,Toshiyuki Miyashita,Naoyuki Matsumoto,Katsunori Fujii,Kayoko Saito,Tomohiro Ando |
| 発行年月 | 2010/08 |
| 概要 | Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder characterized by developmental abnormalities and a predisposition to cancers. Although multiple jaw tumors, such as keratocystic odontogenic tumors (KCOTs), are one of the most frequent complications in NBCCS, the molecular mechanism for how KCOTs develop in NBCCS is poorly understood. A 15-year-old girl with 2 jaw tumors was diagnosed as NBCCS according to the clinical criteria. The pathologic findings indicated that the 2 tumors were consistent with KCOTs. A PTCH1 mutation, c.1472delT, was detected in her peripheral blood as well as in the 2 tumors. Interestingly, an additional PTCH1 mutation, c. 264_265insAATA, that was not present in the peripheral blood, was found in the maxillary tumor but not the mandibular tumor. The Ki-67 labeling index was significantly higher in the maxillary KCOT (17.7%) than in the mandibular KCOT (14.3%). These findings indicate distinct molecular mechanisms of tumorigenesis in these KCOTs. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2010; 110: e41-e46) |
| DOI | 10.1016/j.tripleo.2010.04.006 |