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In addition, retrograde menstruation of shed endometrium is considered the origin of endometriosis. However, little evidence supports cellular continuity from uterine endometrium to clear cell carcinoma through endometriosis at the genomic level. Here, we performed multiregional whole\u2010exome sequencing to clarify clonal relationships among uterine endometrium, ovarian endometriosis and ovarian clear cell carcinoma in a 56\u2010year\u2010old patient. Many somatic mutations including cancer\u2010associated gene mutations in <jats:italic>ARID1A<\/jats:italic>, <jats:italic>ATM<\/jats:italic>, <jats:italic>CDH4<\/jats:italic>, <jats:italic>NRAS<\/jats:italic> and <jats:italic>PIK3CA<\/jats:italic> were shared among epithelium samples from uterine endometrium, endometriotic lesions distant from and adjacent to the carcinoma, and the carcinoma. The mutant allele frequencies of shared mutations increased from uterine endometrium to distant endometriosis, adjacent endometriosis, and carcinoma. Although a splice site mutation of <jats:italic>ARID1A<\/jats:italic> was shared among the four epithelium samples, a frameshift insertion in <jats:italic>ARID1A<\/jats:italic> was shared by adjacent endometriosis and carcinoma samples, suggesting that the biallelic mutations triggered malignant transformation. Somatic copy number alterations, including loss of heterozygosity events at <jats:italic>PIK3CA<\/jats:italic> and <jats:italic>ATM<\/jats:italic>, were identified only in adjacent endometriosis and carcinoma, suggesting that mutant allele\u2010specific imbalance is another key factor driving malignant transformation. By reconstructing a clonal evolution tree based on the somatic mutations, we showed that the epithelium samples were derived from a single ancestral clone. Although the study was limited to a single patient, the results from this illustrative case could suggest the possibility that epithelial cells of ovarian endometriosis and clear cell carcinoma were descendants of uterine endometrial epithelium.<\/jats:p>","DOI":"10.1111\/cas.14507","type":"journal-article","created":{"date-parts":[[2020,5,30]],"date-time":"2020-05-30T21:51:09Z","timestamp":1590875469000},"page":"3000-3009","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":50,"title":["Clonal lineage from normal endometrium to ovarian clear cell carcinoma through ovarian endometriosis"],"prefix":"10.1111","volume":"111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4325-4604","authenticated-orcid":false,"given":"Kazuaki","family":"Suda","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Niigata University Graduate School of Medical and Dental Sciences Niigata 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Studies) Mishima Japan"},{"name":"Human Genetics Laboratory National Institute of Genetics Mishima Japan"},{"name":"Department of Cancer Genome Research Sasaki Institute Sasaki Foundation Chiyoda\u2010ku 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 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teiichi","family":"Motoyama","sequence":"additional","affiliation":[{"name":"Department of Molecular and Diagnostic Pathology Niigata University Graduate School of Medical and Dental Sciences Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ituro","family":"Inoue","sequence":"additional","affiliation":[{"name":"Department of Genetics School of Life Sciences SOKENDAI (Graduate University for Advanced Studies) Mishima 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