title: Utilization of unlabeled probes for the detection of fibroblast growth factor receptor 2 exons 7 and 12 mutations in endometrial carcinoma.
abstract: BACKGROUND
  Endometrial adenocarcinomas are associated with a variety of molecular abnormalities including microsatellite instability, Kirsten rat sarcoma viral oncogene homolog mutations, and phosphatase and tensin homolog inactivation. Recently, mutations in fibroblast growth factor receptor 2 (FGFR2) have been described but their frequency and clinicopathologic characteristics are incompletely known.
  
  
  METHODS
  To determine the frequency of mutations in FGFR2 exons 7 and 12, 43 adenocarcinomas of the endometrium were studied by high-resolution melting analysis utilizing unlabeled probes and sequencing.
  
  
  RESULTS
  Three of 43 (7%) endometrial carcinomas harbored FGFR2 exon 7 mutations. All 3 mutations were S252W and occurred in endometrioid (type I) adenocarcinomas. Direct sequencing indicated that 2 of the S252W mutations were heterozygous, whereas 1 was presumably homozygous. No FGFR2 mutations were detected in exon 12.
  
  
  CONCLUSIONS
  FGFR2 mutations occur in approximately 7% of adenocarcinomas of the endometrium. Only carcinomas of an endometrioid morphology contain FGFR2 mutations, and in our series all were S252W. FGFR2 exons 7 and 12 unlabeled DNA probes allow for easy screening of endometrial carcinoma for the 2 most common FGFR2 mutations (S252W and N550K). Identification of these mutations may have important implications in directed molecular therapy.
authors.affiliation: Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
authors.forename: Ting
authors.initials: T
authors.lastname: Liu
authors.forename: Carlynn
authors.initials: C
authors.lastname: Willmore-Payne
authors.forename: Michelle L
authors.initials: ML
authors.lastname: Wallander
authors.forename: Lester J
authors.initials: LJ
authors.lastname: Layfield
mesh_terms: D018269:Carcinoma, Endometrioid / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D015342:DNA Probes; D018450:Disease Progression; D016889:Endometrial Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007553:Isotope Labeling; D058990:Molecular Targeted Therapy; D009154:Mutation / Q000235:genetics; D009367:Neoplasm Staging; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics / Q000378:metabolism*
chemical_list: D015342:DNA Probes; D051497:Receptor, Fibroblast Growth Factor, Type 2