{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T22:14:37Z","timestamp":1788387277390,"version":"build-2803163510"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,6,4]],"date-time":"2019-06-04T00:00:00Z","timestamp":1559606400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004945","name":"Nankai University","doi-asserted-by":"publisher","award":["63191118"],"award-info":[{"award-number":["63191118"]}],"id":[{"id":"10.13039\/501100004945","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Odontogenic keratocysts (OKCs) are benign jaw lesions with high growth potential and propensity for recurrence. Our previous study revealed that <jats:italic>PTCH1<\/jats:italic> mutations, which were frequently detected in sporadic OKCs, might be underestimated due to the masking effect of the stromal components within the tested tissues. We aimed to confirm these results in larger scale and further present the unbiased view of the genomic basis of sporadic OKCs except <jats:italic>PTCH1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and methods<\/jats:title><jats:p>We analyzed <jats:italic>PTCH1<\/jats:italic> mutations in additional 19 samples. Using whole\u2010exome sequencing (WES), we further characterized the mutational landscape of five sporadic OKC samples lacking <jats:italic>PTCH1<\/jats:italic> mutation and loss of heterozygosity (LOH).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Combined with our previously reported 19 cases, thirty of 38 (79%) cases harbored <jats:italic>PTCH1<\/jats:italic> mutations. Through whole\u2010exome sequencing and integrative analysis, 22 novel mutations were confirmed among five <jats:italic>PTCH1<\/jats:italic>\u2010negative samples. No recurrent mutations were identified in the WES samples and validation cohort of 10 OKCs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our data further confirmed the frequent <jats:italic>PTCH1<\/jats:italic> mutation and other rare genetic alterations in sporadic OKCs, highlighting the central role of SHH signaling pathway. In <jats:italic>PTCH1<\/jats:italic>\u2010negative cases, other rare mutations scattered in a subset of OKCs were independent of the SHH pathway. These results suggested that an SHH inhibitor may be effective to treat the majority of OKCs.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.13135","type":"journal-article","created":{"date-parts":[[2019,6,4]],"date-time":"2019-06-04T11:49:12Z","timestamp":1559648952000},"page":"1600-1607","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["<i>PTCH1<\/i> alterations are frequent but other genetic alterations are rare in sporadic odontogenic keratocysts"],"prefix":"10.1111","volume":"25","author":[{"given":"Jiafei","family":"Qu","sequence":"first","affiliation":[{"name":"Department of Oral Pathology Peking University School and Hospital of Stomatology Beijing China"},{"name":"International VIP Dental Clinic, Tianjin Stomatological Hospital Stomatological Hospital of Nankai University Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianyun","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology Peking University School and Hospital of Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heyu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Central Laboratory Peking University School and Hospital of Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefen","family":"Li","sequence":"additional","affiliation":[{"name":"Central Laboratory Peking University School and Hospital of Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingying","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology Peking University School and Hospital of Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiemei","family":"Zhai","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, School of Stomatology Kunming Medical University Kunming China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanjin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology Peking University School and Hospital of Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Chen","sequence":"additional","affiliation":[{"name":"Central Laboratory Peking University School and Hospital of Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5983-2985","authenticated-orcid":false,"given":"Tiejun","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology Peking University School and Hospital of Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,7]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2013.7444"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3525"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.2514"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/jop.12671"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2011.04.017"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034510379016"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20296"},{"issue":"2","key":"e_1_2_9_10_1","first-page":"165","article-title":"Keratocystic odontogenic tumour: Reclassification of the odontogenic keratocyst from cyst to tumour","volume":"74","author":"Madras J.","year":"2008","journal-title":"Journal\/Canadian Dental Association"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"issue":"9","key":"e_1_2_9_12_1","first-page":"38","article-title":"Reconstructive surgical management of a recurrent odontogenic keratocyst: Case report and 1\u2010year follow\u2010up","volume":"93","author":"Miller N. 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