title: Oncogenic events associated with endometrial and ovarian cancers are rare in endometriosis.
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 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, and 9 genes (BRAF, HRAS, NRAS, CTNNB1, CDK4, FGFR3, PIK3CA, TP53 and PTEN) were analyzed for mutations using denaturing gradient gel electrophoresis 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.
authors: Department of Molecular Biology,  Aarhus University, 8000 Aarhus C,  Denmark.
authors: Anna L
authors: AL
authors: Vestergaard
authors: Katrine
authors: K
authors: Thorup
authors: Ulla B
authors: UB
authors: Knudsen
authors: Torben
authors: T
authors: Munk
authors: Hanne
authors: H
authors: Rosbach
authors: Jesper B
authors: JB
authors: Poulsen
authors: Per
authors: P
authors: Guldberg
authors: Pia M
authors: PM
authors: Martensen
mesh_terms: D000328:Adult; D019175:DNA Methylation; D004591:Electrophoresis, Polyacrylamide Gel; D016889:Endometrial Neoplasms / Q000235:genetics; D004715:Endometriosis / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D016283:Proto-Oncogene Proteins p21(ras); D012107:Research Design; D017422:Sequence Analysis, DNA; D044366:Transition Temperature; D018631:ras Proteins / Q000235:genetics*
chemical_list: C117307:KRAS protein, human; D011518:Proto-Oncogene Proteins; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins