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

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  • Anna Lindeløv Vestergaard, Danmark
  • Katrine Thorup, Danish Cancer Society, Danmark
  • Ulla Breth Knudsen
  • Torben Munk, Odense University Hospital, Danmark
  • Hanne Rosbach, Odense University Hospital, Danmark
  • Jesper Buchhave Poulsen, Danmark
  • Per Guldberg, Danish Cancer Society, Danmark
  • Pia Møller Martensen
  • Molekylærbiologisk Institut
  • Institut for Fysiologi og Biofysik
  • Gynækologisk/Obstetrisk afd. Y- SKS
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.
OriginalsprogEngelsk
TidsskriftMolecular Human Reproduction
Vol/bind17
Nummer4
Sider (fra-til)243-254
ISSN1360-9947
DOI
StatusUdgivet - 2011

    Forskningsområder

  • endometriose, endometrium, malign, mutation, methylering

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