{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T06:30:12Z","timestamp":1791613812792,"version":"4.3.4"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T00:00:00Z","timestamp":1751846400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"crossref","award":["19K09822, 19K18633, 21K16810, 22K09635, 23H02756, 23K27447, 24K12597"],"award-info":[{"award-number":["19K09822, 19K18633, 21K16810, 22K09635, 23H02756, 23K27447, 24K12597"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002241","name":"Japan Science and Technology Agency","doi-asserted-by":"crossref","award":["JPMJFR2218"],"award-info":[{"award-number":["JPMJFR2218"]}],"id":[{"id":"10.13039\/501100002241","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Japan Agency for Medical Research and Development (AMED) categorized as the Project for Whole Implementation to Support and Ensure the female life","award":["22583077"],"award-info":[{"award-number":["22583077"]}]}],"content-domain":{"domain":["rep.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,7,7]]},"abstract":"<jats:sec>\n                    <jats:title>In brief<\/jats:title>\n                    <jats:p>By tissue-selective next-generation sequencing, we showed that adenomyotic epithelium harbored genomic alterations thought to be relevant to the development and progression of adenomyosis, including somatic mutations in several cancer-associated genes with high mutant allele frequencies and the gain of chromosome 1q. Clonal relationships among multiple adenomyotic lesions and the normal uterine endometrium delineate the oligoclonal origin of adenomyosis and the spatial expansion of mutant clones.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Abstract<\/jats:title>\n                    <jats:p>\n                      To identify the distinctive features of mutation profiles in adenomyosis compared to the coexisting normal endometrium, multi-regional sampling was performed to collect samples of adenomyotic epithelium (\n                      <jats:italic>n<\/jats:italic>\n                      = 41), adenomyotic stroma (\n                      <jats:italic>n<\/jats:italic>\n                      = 12), and uterine endometrial epithelium (\n                      <jats:italic>n<\/jats:italic>\n                      = 53) from 21 patients with adenomyosis. To enhance the purity in this genomic study, laser microdissection was used to isolate all the samples. Target-gene sequencing and whole-exome sequencing were performed to identify somatic mutations in cancer-associated genes and the pattern of cellular expansion in adenomyosis and clonality between adenomyosis and uterine endometrium. In adenomyotic epithelium, we identified somatic mutations in cancer-associated genes such as\n                      <jats:italic>KRAS<\/jats:italic>\n                      (34.1%),\n                      <jats:italic>PIK3CA<\/jats:italic>\n                      (12.2%),\n                      <jats:italic>ARID1A<\/jats:italic>\n                      (12.1%), and\n                      <jats:italic>FBXW7<\/jats:italic>\n                      (9.8%) with high mutant allele frequency. In uterine endometrial epithelium, frequently mutated genes included\n                      <jats:italic>KRAS<\/jats:italic>\n                      (47.2%),\n                      <jats:italic>PIK3CA<\/jats:italic>\n                      (37.8%), and\n                      <jats:italic>ARHGAP35<\/jats:italic>\n                      (28.3%). Whole-exome sequencing revealed clonal relationships among adenomyotic lesions, and between adenomyosis and uterine endometrium. The analysis of somatic copy number alterations (SCNAs) showed recurring gain of chromosome 1q in the adenomyotic epithelium but not in the uterine endometrial endometrium. Mutational signature analysis for SNVs revealed that similar mutational processes were shared in adenomyosis and uterine endometrium. In this study, we identified multiple cancer-associated gene mutations and SCNAs relevant to the development of adenomyosis, and also clonal relationships among multiple adenomyotic lesions and normal uterine endometrium.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/rep-25-0132","type":"journal-article","created":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T11:22:02Z","timestamp":1751887322000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-11","source":"Crossref","is-referenced-by-count":7,"title":["Mutation profile and chromosomal abnormality in adenomyosis"],"prefix":"10.1093","volume":"170","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4325-4604","authenticated-orcid":true,"given":"Kazuaki","family":"Suda","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6270-0753","authenticated-orcid":true,"given":"Kotaro","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan"},{"name":"Department of Cancer Genome Research, Sasaki Institute, Sasaki Foundation, Chiyoda-ku, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9673-7941","authenticated-orcid":true,"given":"Ryo","family":"Tamura","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyota","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2880-9165","authenticated-orcid":true,"given":"Manako","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Child Health Research Center, University of Virginia School of Medicine, Charlottesville, Virginia, USA"}],"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, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sosuke","family":"Adachi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroaki","family":"Kase","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Nagaoka Chuo General Hospital, Nagaoka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7704-8104","authenticated-orcid":true,"given":"Shujiro","family":"Okuda","sequence":"additional","affiliation":[{"name":"Medical AI Center, Niigata University School of Medicine, Niigata, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2254-3378","authenticated-orcid":true,"given":"Kosuke","family":"Yoshihara","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8454-1159","authenticated-orcid":true,"given":"Hirofumi","family":"Nakaoka","sequence":"additional","affiliation":[{"name":"Department of Cancer Genome Research, Sasaki Institute, Sasaki Foundation, Chiyoda-ku, Tokyo, Japan"},{"name":"Department of Biomedical Data Science, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"key":"bib1","series-title":"Best Pract Res Clin Obstet Gynaecol","first-page":"68","article-title":"Adenomyosis and abnormal uterine bleeding (AUB-A)-Pathogenesis, diagnosis, and management","volume":"40","author":"Abbott JA","year":"2017","unstructured":"Abbott JA\n\n 2017 Adenomyosis and abnormal uterine bleeding (AUB-A)-Pathogenesis, diagnosis, and management. 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