{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T05:11:30Z","timestamp":1781845890190,"version":"3.54.5"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,11,24]],"date-time":"2024-11-24T00:00:00Z","timestamp":1732406400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["21H03146"],"award-info":[{"award-number":["21H03146"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["21K10103"],"award-info":[{"award-number":["21K10103"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["23K16134"],"award-info":[{"award-number":["23K16134"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Oral Pathology Medicine"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Odontogenic keratocyst (OKC) is a partial manifestation of Gorlin syndrome (GS), resulting from the abnormal activation of the hedgehog signaling pathway. OKC predominantly occurs in young adults and is mostly asymptomatic at the time of initial diagnosis. As OKC is asymptomatic, GS can be challenging to diagnose in certain instances. In this study, we attempted to identify asymptomatic GS from sporadic OKC cases using a previously developed gene panel for GS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Genomic DNA was extracted from patient samples. These DNA samples were analyzed using the AmpliSeq Custom DNA Panel (Illumina), which was specifically designed to target four previously established genes (\n                      <jats:italic>PTCH1<\/jats:italic>\n                      ,\n                      <jats:italic>PTCH2<\/jats:italic>\n                      ,\n                      <jats:italic>SMO<\/jats:italic>\n                      , and\n                      <jats:italic>SUFU<\/jats:italic>\n                      ). Mutations from patients were predicted using tools, such as MutationTaster, CADD, and Polyphen\u20102.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Thirty\u2010one patients with OKC were included: 22 sporadic, 9 syndromic, 14 cases with dentigerous cysts, and 3 patients with orthokeratinized odontogenic cysts. One patient with sporadic OKC carried 50% genetic mutation in the cyst and blood, indicative of GS.\n                      <jats:italic>PTCH1<\/jats:italic>\n                      mutations were found in one of the 14 patients with dentigerous cysts, 3 of the 17 first\u2010time sporadic cases, and all four recurrent cases. Resected OKC tissues revealed a\n                      <jats:italic>PTCH1<\/jats:italic>\n                      mutation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We found one patient with GS from those diagnosed with sporadic OKC. Our findings suggest that\n                      <jats:italic>PTCH1<\/jats:italic>\n                      mutations are associated with postoperative recurrence of OKC, implying that hedgehog\u2010related gene variations may contribute to jaw cyst development and improve the prognosis of OKC.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jop.13586","type":"journal-article","created":{"date-parts":[[2024,11,24]],"date-time":"2024-11-24T21:40:34Z","timestamp":1732484434000},"page":"12-21","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Analysis of Germline and Somatic Mutation in Patients With Developmental Odontogenic Cysts Using Targeted Gene Panel"],"prefix":"10.1111","volume":"54","author":[{"given":"Itsuki","family":"Hideshima","sequence":"first","affiliation":[{"name":"Department of Oral Pathobiological Science and Surgery Tokyo Dental College  Chiyoda\u2010ku Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuriko","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Oral Oncology, Oral and Maxillofacial Surgery Tokyo Dental College  Ichikawa Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0673-3400","authenticated-orcid":false,"given":"Shoko","family":"Onodera","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Tokyo Dental College  Chiyoda\u2010ku Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihiko","family":"Akashi","sequence":"additional","affiliation":[{"name":"Department of Pathology Tokyo Dental College  Chiyoda\u2010ku Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenichi","family":"Matsuzaka","sequence":"additional","affiliation":[{"name":"Department of Pathology Tokyo Dental College  Chiyoda\u2010ku Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masayuki","family":"Takano","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery Tokyo Dental College  Chiyoda\u2010ku Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Nomura","sequence":"additional","affiliation":[{"name":"Department of Oral Oncology, Oral and Maxillofacial Surgery Tokyo Dental College  Ichikawa Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Katakura","sequence":"additional","affiliation":[{"name":"Department of Oral Pathobiological Science and Surgery Tokyo Dental College  Chiyoda\u2010ku Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0746-8138","authenticated-orcid":false,"given":"Toshifumi","family":"Azuma","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Tokyo Dental College  Chiyoda\u2010ku Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,11,24]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cden.2019.08.002"},{"key":"e_1_2_11_3_1","first-page":"321","article-title":"What Is Currently Known About Odontogenic Keratocysts?","volume":"20","author":"Valdivia A. 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M.","year":"2022","journal-title":"Oral Health & Preventive Dentistry"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1079-2104(98)90148-2"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijom.2012.02.008"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcms.2016.11.010"},{"key":"e_1_2_11_7_1","first-page":"e491","article-title":"Recurrence of Odontogenic Keratocysts and Possible Prognostic Factors: Review of 455 Patients","volume":"24","author":"Fidele N.\u2010B.","year":"2019","journal-title":"Medicina Oral, Patolog\u00eda Oral y Cirug\u00eda Bucal"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196005052621803"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9317"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-32"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81268-4"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.TRIPLEO.2010.04.006"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/JOURNAL.PONE.0184702"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stomax.2009.07.011"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0070995"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/odi.13135"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000001407"},{"key":"e_1_2_11_19_1","first-page":"1","volume-title":"Cysts of the Oral and Maxillofacial Regions","author":"Shear M.","year":"2008"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(87)90176-9"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijom.2022.03.054"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1016"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aas8935"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.oraloncology.2014.09.016"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034510379016"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/pedi.12931"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-013-9623-1"}],"container-title":["Journal of Oral Pathology &amp; Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jop.13586","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T21:06:42Z","timestamp":1736802402000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jop.13586"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,24]]},"references-count":28,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1111\/jop.13586"],"URL":"https:\/\/doi.org\/10.1111\/jop.13586","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/JOP.13586\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/JOP.13586\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/JOP.13586\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/JOP.13586\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/JOP.13586\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/JOP.13586\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/JOP.13586\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/JOP.13586\/v3\/response1","asserted-by":"object"}]},"ISSN":["0904-2512","1600-0714"],"issn-type":[{"value":"0904-2512","type":"print"},{"value":"1600-0714","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,24]]},"assertion":[{"value":"2024-01-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-28","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-24","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}