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    Odontogenic diseases are diagnosed based on clinical course, imaging, and histopathology. However, a definitive diagnosis is not always possible. We analyzed whole exons of SMO, BRAF, PTCH1 and GNAS using next-generation sequencing (NGS) in 18 patients. 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. Whole exome sequencing of the above genes by NGS would be useful for the differential diagnosis of odontogenic diseases. Copyright© 2020, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.


    Michiko Shimura, Koh-Ichi Nakashiro, Yuta Sawatani, Tomonori Hasegawa, Ryota Kamimura, Sayaka Izumi, Yuske Komiyama, Chonji Fukumoto, Shuma Yagisawa, Erika Yaguchi, Masayo Hitomi-Koide, Toshiki Hyodo, Daisuke Uchida, Hitoshi Kawamata. Whole Exome Sequencing of SMO, BRAF, PTCH1 and GNAS in Odontogenic Diseases. In vivo (Athens, Greece). 2020 Nov-Dec;34(6):3233-3240

    PMID: 33144428

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