fa Molecular pathogenesis of keratocystic odontogenic tumors developing in nevoid basal cell carcinoma syndrome پاتولوزی دهان، فک و صورت Oral and Maxillofacial Pathology پژوهشي Research <p> <strong>Objective</strong></p><p>  The aim of this study was to investigate the molecular pathogenesis of keratocystic odontogenic tumors (KCOTs) that developed in nevoid basal cell carcinoma syndrome (NBCCS) patients. ]</p><p> <strong>Study design</strong> </p><p> We analyzed germline and somatic mutations of the PTCH1 and its related genes, SMO and SUFU in 10 KCOTs that developed in 8 unrelated NBCCS patients. Methylation status of the PTCH1 promoter was also investigated by bisulfite sequencing. </p><p> <strong>Results</strong></p><p>  Somatic mutations of PTCH1 were detected in 3 KCOTs. Two out of 3 somatic mutations were either identified as a polymorphism or located on the same allele as the germline mutation. Neither abnormal methylation of the PTCH1 promoter, loss of PTCH1, nor somatic mutation of SMO or SUFU was detected in any of the samples. </p><p> <strong>Conclusions</strong></p><p> <strong> </strong>Our results suggest that the tumorigenesis of most KCOTs associated with NBCCS cannot be explained by the classical 2-hit theory. </p><hr><p></p><p> <strong>Source: </strong>Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology </p><p> <a href="http://www.oooojournal.net/article/S2212-4403(13)00337-4/abstract" target="_blank"><font color="#0000ff">Full Text</font></a></p> 0 0 http://idai.ir/browse.php?a_code=A-10-32-1711&slc_lang=fa&sid=1 Maiko Suzuki 10031947532846008050 10031947532846008050 No Department of Molecular Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan Kazuaki Nakao 10031947532846008051 10031947532846008051 No Department of Molecular Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan Hiromi Hatsuse 10031947532846008052 10031947532846008052 No Department of Molecular Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan Ryo Sasaki 10031947532846008053 10031947532846008053 No Department of Oral and Maxillofacial Surgery, Tokyo Women's Medical University, Tokyo, Japan Kayoko Saito 10031947532846008054 10031947532846008054 No Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan Katsunori Fuji 10031947532846008055 10031947532846008055 No Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan Toshiyuki Miyashita 10031947532846008056 10031947532846008056 Yes Department of Molecular Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan