Does endometriosis really have premalignant potential? A clonal analysis of laser-microdissected tissue
Abstract
Since 1925, epidemiological and histological evidence for an association between endometriosis and ovarian neoplasia has accumulated. Recently, publications assaying the clonality of a given cell population have implied endometriosis has premalignant properties. However, the human androgen receptor used as a marker in these studies is of highly questionable reliability due to the instability of its methylation pattern in nonmalignant cells and during the course of malignancy. Therefore, we decided to readdress the question of clonality of endometriotic foci by using an alternative assay based on a polymorphism of the phosphoglycerate kinase-1 gene. We overcame the limitation to using ovarian cysts (a problem encountered in other studies) by laser-microdissecting defined tissue fractions of interest. From the 13/29 informative patients, a total of 32 endometriotic samples from various sites was assayed. Only 2/32 samples from different patients bore monoclonal tissue. With one of those cases, we present the first direct evidence of the two morphological endometric compartments comprising a single biphasic developmental unit. Neither monoclonal patient was characterized by any outstanding clinical parameters, including neoplasia. Individual endometriotic foci from the only patient in this study with neoplasia was assayed as being polyclonal. Therefore, former studies stating endometriosis as premalignant have to be cautiously reinterpreted.
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Endometriosis lesions are clonal, as demonstrated for typical, deep, and cystic ovarian endometriosis.
“Endometriosis lesions are clonal, as demonstrated for typical (149), deep (150), and cystic ovarian (151-153) endometriosis.”
From Pathogenesis of endometriosis: The genetic/epigenetic theory (2019) · cites this paper as [150]
Deep and cystic ovarian endometriosis are consistently found to be clonal in origin.
“A strong argument is that deep (174, 175) and cystic (176-178) ovarian endometriosis are consistently found to be clonal in origin.”
From Pathogenesis of deep endometriosis (2017) · cites this paper as [174]
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Pathogenesis of endometriosis: The genetic/epigenetic theory
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- Authors
- Mayr, D., Amann, G., Siefert, C., Diebold, J., & Anderegg, B.
- Affiliations
- Ludwig-Maximilians-Universität München (DE)
- ORCID
- Diebold, Joachim
- Venue
- The FASEB Journal
- Publisher
- Wiley
- Published
- 2003-02-19
- Volume
- 17
- Issue
- 6
- Pages
- 693-695
- ISSN
- 0892-6638 (ISSN-L)
- 1530-6860
- OpenAlex
- W2116497451
- Cited by
- 41
- References
- 41
- Citations by year
- 2025: 1 · 2023: 1 · 2022: 2 · 2021: 1 · 2020: 2 · 2019: 2 · 2018: 1 · 2017: 2 · 2016: 1 · 2015: 2 · 2014: 4 · 2013: 1 · 2012: 5
- FWCI
- 2.14
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The FASEB Journal (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Health Sciences › Medicine › Reproductive Medicine › Ovarian cancer diagnosis and treatment
- Life Sciences › Agricultural and Biological Sciences › Ecology, Evolution, Behavior and Systematics › Plant and fungal interactions
- Keywords
- endometriosis, ovarian neoplasms, clonality, laser microdissection, human androgen receptor, DNA methylation, monoclonality, polyclonality
- MeSH terms
- Clone Cells, Dissection, DNA, Endometriosis, Female, Humans, Lasers, Ovarian Neoplasms, Phosphoglycerate Kinase, Precancerous Conditions, Deoxyribonucleases, Type II Site-Specific
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