Clonal Expansion and Diversification of Cancer-Associated Mutations in Endometriosis and Normal Endometrium
Open accessAbstract
Endometriosis is characterized by ectopic endometrial-like epithelium and stroma, of which molecular characteristics remain to be fully elucidated. We sequenced 107 ovarian endometriotic and 82 normal uterine endometrial epithelium samples isolated by laser microdissection. In both endometriotic and normal epithelium samples, numerous somatic mutations were identified within genes frequently mutated in endometriosis-associated ovarian cancers. KRAS is frequently mutated in endometriotic epithelium, with a higher mutant allele frequency (MAF) accompanied by arm-level allelic imbalances. Analyses of MAF, combined with multiregional sequencing, illuminated spatiotemporal evolution of the endometriosis and uterine endometrium genomes. We sequenced 109 single endometrial glands and found that each gland carried distinct cancer-associated mutations, demonstrating the heterogeneity of the genomic architecture of endometrial epithelium. Remarkable increases in MAF of mutations in cancer-associated genes in endometriotic epithelium suggest retrograde flow of endometrial cells already harboring cancer-associated mutations, with selective advantages at ectopic sites, leading to the development of endometriosis.
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Molecular biology techniques using next-generation sequencing have provided clues to the origin of endometriosis and pathogenesis that cannot be elucidated by epidemiological investigations alone.
“Recently, molecular biology techniques using a next‐generation sequencing have also provided clues to the origin of endometriosis and pathogenesis that cannot be elucidated by epidemiological investigations alone.”
From Extra-pelvic endometriosis: a review. (2020) · cites this paper as [103]
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- Authors
- Suda, K., Nakaoka, H., Yoshihara, K., Ishiguro, T., Tamura, R., Mori, Y., Yamawaki, K., Adachi, S., Takahashi, T., Kase, H., Tanaka, K., Yamamoto, T., Motoyama, T., Inoue, I., & Enomoto, T.
- Affiliations
- Niigata University (JP)
- National Institute of Genetics (JP)
- Kyoto University (JP)
- Nagaoka Chuo General hospital (JP)
- Niigata Medical Center (JP)
- Corresponding author
- Yoshihara, Kosuke
- Inoue, Ituro
- Enomoto, Takayuki
- ORCID
- Venue
- Cell Reports
- Publisher
- Elsevier BV
- Published
- 2018-08
- Volume
- 24
- Issue
- 7
- Pages
- 1777-1789
- ISSN
- 2211-1247 (ISSN-L)
- OpenAlex
- W2885069342
- Cited by
- 414
- References
- 66
- Citations by year
- 2026: 36 · 2025: 41 · 2024: 51 · 2023: 61 · 2022: 70 · 2021: 58 · 2020: 55 · 2019: 38 · 2018: 4
- FWCI
- 41.34
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Cell Reports (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Institutional Repositories DataBase (IRDB) (submittedVersion, cc-by-nc-nd)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Funders
- Japan Society for the Promotion of Science (JP17K08688, JP16H06279, JP16H06267, JP15H02373)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Health Sciences › Medicine › Reproductive Medicine › Ovarian cancer diagnosis and treatment
- Keywords
- endometriosis, endometrium, somatic mutations, clonal expansion, clonal diversification, KRAS mutation, mutant allele frequency, allelic imbalance, tumor evolution, retrograde flow, endometriosis-associated ovarian cancer
- MeSH terms
- Whole Genome Sequencing, F-Box-WD Repeat-Containing Protein 7, Alleles, Clone Cells, Endometriosis, Endometrium, Epithelial Cells, Female, Gene Frequency, Humans, Middle Aged, Mutation, Genome, Human, Gene Expression Regulation, Neoplastic, Proto-Oncogene Proteins p21(ras), Endometrial Neoplasms, Phosphatidylinositol 3-Kinases, Gene Expression Profiling, Protein Phosphatase 2, Class I Phosphatidylinositol 3-Kinases, Class Ia Phosphatidylinositol 3-Kinase, Laser Capture Microdissection, Carcinogenesis
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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