%0 Journal Article
%A MICHIKO SHIMURA
%A KOH-ICHI NAKASHIRO
%A YUTA SAWATANI
%A TOMONORI HASEGAWA
%A RYOTA KAMIMURA
%A SAYAKA IZUMI
%A YUSKE KOMIYAMA
%A CHONJI FUKUMOTO
%A SHUMA YAGISAWA
%A ERIKA YAGUCHI
%A MASAYO HITOMI-KOIDE
%A TOSHIKI HYODO
%A DAISUKE UCHIDA
%A HITOSHI KAWAMATA
%T Whole Exome Sequencing of SMO, BRAF, PTCH1 and GNAS in Odontogenic Diseases
%D 2020
%R 10.21873/invivo.12159
%J In Vivo
%P 3233-3240
%V 34
%N 6
%X 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.
%U https://iv.iiarjournals.org/content/invivo/34/6/3233.full.pdf