{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T17:02:44Z","timestamp":1765040564948},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,1,18]],"date-time":"2016-01-18T00:00:00Z","timestamp":1453075200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:sec><jats:label \/><jats:p>We describe a Gorlin syndrome (GS) case with two different second hit mutations of <jats:italic>PTCH1<\/jats:italic>, one in a keratocystic odontogenic tumor (KCOT) and the other in an ovarian leiomyoma. GS is a rare genetic condition manifesting as multiple basal cell nevi associated with other features such as medulloblastomas, skeletal abnormalities, and ovarian fibromas. A 21\u2010year\u2010old Japanese woman with a history of two KCOTs was diagnosed with GS according to clinical criteria. A <jats:italic>PTCH1<\/jats:italic> mutation, c.1427del T, was detected in peripheral blood. A novel <jats:italic>PTCH1<\/jats:italic> mutation, c.264_265insAATA, had been found in the maxillary KCOT as a second hit mutation. More recently, the ovarian tumor was detected during a gynecological examination. Laparoscopic adnexectomy was performed, and the pathological diagnosis of the ovarian tumor was leiomyoma. Interestingly, another novel mutation, loss of heterozygosity spanning from 9q22.32 to 9q31.2, including <jats:italic>PTCH1<\/jats:italic> and 89 other genes, was detected in this ovarian tumor, providing evidence of a second hit mutation. This is the first report describing a GS\u2010associated ovarian tumor carrying a second hit in the <jats:italic>PTCH1<\/jats:italic> region. We anticipate that accumulation of more cases will clarify the importance of second hit mutations in ovarian tumor formation in GS. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37517","type":"journal-article","created":{"date-parts":[[2016,1,19]],"date-time":"2016-01-19T04:32:49Z","timestamp":1453177969000},"page":"1029-1034","source":"Crossref","is-referenced-by-count":4,"title":["Gorlin syndrome with an ovarian leiomyoma associated with a <i>PTCH1<\/i> second hit"],"prefix":"10.1002","volume":"170","author":[{"given":"Yoshika","family":"Akizawa","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Tokyo Women's Medical University Tokyo Japan"},{"name":"Institute of Medical Genetics Tokyo Women's Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Miyashita","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics Kitasato 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