{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T20:16:03Z","timestamp":1790972163931,"version":"4.1.0"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T00:00:00Z","timestamp":1768435200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"JSPS KAKENHI","award":["JP18K16760"],"award-info":[{"award-number":["JP18K16760"]}]},{"name":"JSPS KAKENHI","award":["JP21K16785"],"award-info":[{"award-number":["JP21K16785"]}]},{"name":"JSPS KAKENHI","award":["JP23K27447"],"award-info":[{"award-number":["JP23K27447"]}]},{"name":"University Medical Research"},{"name":"Kanzawa Grant"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Ovarian mature teratoma (OMT) exhibits copy-neutral loss of heterozygosity (CN-LOH) derived from meiotic errors. Studies have classified OMT into five types using these CN-LOH patterns. However, tumor purity issues have hindered accurate classification and molecular characterization. Moreover, the relationship between OMT genomic abnormalities and malignant transformation remains unclear. Here, we used laser microdissection to selectively collect 29 epithelial regions from 22 OMT cases and 1 carcinoma in situ (CIS) region from a squamous cell carcinoma case arising from OMT. We then conducted whole-exome sequencing. Copy number analysis enabled classification according to the established system. In cases with multi-regional sampling, the CN-LOH patterns were identical within the same tumor, while bilateral tumors showed distinct patterns, indicating that each tumor originated independently. Among the type II OMTs, which are believed to result from meiosis II error, 2 cases exhibited a chromosomal gain. Assessment of heterozygosity suggested that these cases had meiosis I error before meiosis II error. Somatic mutation analysis revealed an extremely low mutation burden, with 1 case harboring a PIK3CA mutation. In the CIS region, additional copy number alterations were present alongside the underlying CN-LOH pattern. TP53 mutations and loss of the wild-type allele were detected. The tumor mutation burden of CIS was 6.2 mutations per megabase. Mutational signature analysis showed enrichment of apolipoprotein B mRNA editing enzyme catalytic subunit-associated signatures. This study suggests novel perspectives on the mechanisms of OMT tumor development and malignant transformation.<\/jats:p>","DOI":"10.1093\/reprod\/xaaf019","type":"journal-article","created":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T12:19:41Z","timestamp":1767615581000},"source":"Crossref","is-referenced-by-count":1,"title":["Genomic profiling of meiotic errors and early malignant transformation events in ovarian mature teratoma"],"prefix":"10.1093","volume":"171","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6270-0753","authenticated-orcid":false,"given":"Kotaro","family":"Takahashi","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences , Niigata,","place":["Japan"]},{"name":"Department of Cancer Genome Research, Sasaki Institute , Tokyo,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9673-7941","authenticated-orcid":false,"given":"Ryo","family":"Tamura","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences , Niigata,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4325-4604","authenticated-orcid":false,"given":"Kazuaki","family":"Suda","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences , Niigata,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nozomi","family":"Yachida","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences , Niigata,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2880-9165","authenticated-orcid":false,"given":"Manako","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences , Niigata,","place":["Japan"]},{"name":"Department of Pediatrics, Child Health Research Center, University of Virginia School of Medicine , Charlottesville, VA,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2880-1662","authenticated-orcid":false,"given":"Rose Maria","family":"Mathew","sequence":"additional","affiliation":[{"name":"Department of Cancer Genome Research, Sasaki Institute , Tokyo,","place":["Japan"]},{"name":"Department of Biomedical Data Science, Kagoshima University Graduate School of Medical and Dental Sciences , Kagoshima,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7704-8104","authenticated-orcid":false,"given":"Shujiro","family":"Okuda","sequence":"additional","affiliation":[{"name":"Division of Bioinformatics, Niigata University Graduate School of Medical and Dental Sciences , Niigata,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2254-3378","authenticated-orcid":false,"given":"Kosuke","family":"Yoshihara","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences , Niigata,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8454-1159","authenticated-orcid":false,"given":"Hirofumi","family":"Nakaoka","sequence":"additional","affiliation":[{"name":"Department of Cancer Genome Research, Sasaki Institute , Tokyo,","place":["Japan"]},{"name":"Department of Biomedical Data Science, Kagoshima University Graduate School of Medical and Dental Sciences , Kagoshima,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,3,21]]},"reference":[{"key":"2026032113465653900_xaaf019-B1","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1038\/s41586-020-1943-3","article-title":"The repertoire of mutational signatures in human cancer","volume":"578","author":"Alexandrov","year":"2020","journal-title":"Nature"},{"key":"2026032113465653900_xaaf019-B2","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"key":"2026032113465653900_xaaf019-B3","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1093\/bib\/bbx082","article-title":"Computational 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