title: FOXL2 C402G mutation detection using MALDI-TOF-MS in DNA extracted from Israeli granulosa cell tumors.
abstract: OBJECTIVE
  To develop a rapid, sensitive and reliable method to detect FOXL2 C402G mutation in granulosa cell tumor (GCT) and to investigate the prevalence of FOXL2 mutation in granulose cell tumors among Israeli patients.
  
  
  METHODS
  We designed and optimized a matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS) genotyping assay to detect FOXL2 C402G mutation in DNA isolated from formalin-fixed paraffin-embedded tissue samples. We examined 20 tumor samples obtained from Israeli patients diagnosed with granulose cell tumor.
  
  
  RESULTS
  Eighteen out of 20 samples were found to harbor FOXL2 C402G mutation. Pathological review of the two tumors harboring wild type FOXL2 (C402) concluded that they were adenocarcinomas and has been misclassified at initial diagnosis. We found that the prevalence of FOXL2 mutations among Israeli patients with GCT (100%) is similar to previous reports.
  
  
  CONCLUSIONS
  Our results indicate that the FOXL2 mutations can be reliably detected by MALDI-TOF-MS genotyping. MALDI-TOF-MS genotyping is a simple, robust and highly sensitive method to detect FOXL2 C402G mutation. Our results confirm previous studies reporting over 95% prevalence of FOXL2 mutation in GCT. Furthermore, we suggest that testing for the presence of the FOXL2 C402G mutation may improve diagnostic accuracy.
authors.affiliation: Department of Obstetric and Gynecologic, Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: Rotem
authors.initials: R
authors.lastname: Gershon
authors.forename: Sarit
authors.initials: S
authors.lastname: Aviel-Ronen
authors.forename: Jacob
authors.initials: J
authors.lastname: Korach
authors.forename: Vered
authors.initials: V
authors.lastname: Daniel-Carmi
authors.forename: Camila
authors.initials: C
authors.lastname: Avivi
authors.forename: Dalia
authors.initials: D
authors.lastname: Bar-Ilan
authors.forename: Iris
authors.initials: I
authors.lastname: Barshack
authors.forename: Dror
authors.initials: D
authors.lastname: Meirow
authors.forename: Gilad
authors.initials: G
authors.lastname: Ben-Baruch
authors.forename: Yoram
authors.initials: Y
authors.lastname: Cohen
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics / Q000473:pathology; D000483:Alleles; D004273:DNA, Neoplasm / Q000235:genetics*; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D017353:Gene Deletion; D006106:Granulosa Cell Tumor / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007557:Israel; D009364:Neoplasm Recurrence, Local / Q000235:genetics / Q000473:pathology; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods
chemical_list: D004273:DNA, Neoplasm; C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors