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

Anna Lindeløv Vestergaard, Katrine Thorup, Ulla Breth Knudsen, Torben Munk, Hanne Rosbach, Jesper Buchhave Poulsen, Per Guldberg, Pia Møller Martensen

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    Abstract

    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
    Volume17
    Issue4
    Pages (from-to)243-254
    ISSN1360-9947
    DOIs
    Publication statusPublished - 2011

    Keywords

    • endometriosis
    • endometrium
    • malignancy
    • mutation
    • methylation

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    • Enometriosis and type I Interferon

      Vestergaard, A. L. (Project manager) & Martensen, P. M. (Project manager)

      01/08/200731/07/2010

      Project: Research

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