Oncogenic events associated with endometrial and ovarian cancers are rare in endometriosis.

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  • Anna Lindeløv Vestergaard, Denmark
  • Katrine Thorup, Danish Cancer Society, Denmark
  • Ulla Breth Knudsen
  • Torben Munk, Odense University Hospital, Denmark
  • Hanne Rosbach, Odense University Hospital, Denmark
  • Jesper Buchhave Poulsen, Denmark
  • Per Guldberg, Danish Cancer Society, Denmark
  • Pia Møller Martensen
  • Department of Molecular Biology
  • Department of Physiology and Biophysics
  • Obstetrics and Gynaecology
Endometriosis displays some features that resemble malignant processes, including invasive growth, resistance to apoptosis, and distant implantation. The objective of this study was to investigate whether gene alterations that are frequent in endometrial and/or ovarian cancers contribute to the pathogenesis of endometriosis. Biopsies were obtained from ectopic endometriosis lesions from 23 patients with revised American Fertility Score (rAFS) stage 1 (N=1), 2 (N=10), 3 (N=11), or 4 (N=1) endometriosis. Six genes (APC, CDKN2A, PYCARD, RARB, RASSF1, and ESR1) were analyzed for promoter hypermethylation using methylation-specific melting curve analysis (MS-MCA), and 9 genes (BRAF, HRAS, NRAS, CTNNB1, CDK4, FGFR3, PIK3CA, TP53 and PTEN) were analyzed for mutations using denaturing gradient gel electrophoresis (DGGE) and direct sequencing. An oncogenic mutation in KRAS (c. 34G>T; p.G12C) was detected in a single lesion. No gene alterations were found in the remaining samples. Our data suggest that genetic and epigenetic events contributing to endometrial and ovarian cancers are rare in endometriosis. However, other proto-oncogenes and tumor suppressor genes should be tested for alterations in order to identify the molecular basis of the susceptibility of endometriosis to malignant transformation.
Original languageEnglish
JournalMolecular Human Reproduction
Pages (from-to)243-254
Publication statusPublished - 2011

    Research areas

  • endometriosis, endometrium, malignancy, mutation, methylation

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  • Danish Cancer Society

    Activity: Visiting an external institution typesVisiting an external academic institution


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