title: Mutational analysis (c.402C>G) of the FOXL2 gene and immunohistochemical expression of the FOXL2 protein in testicular adult type granulosa cell tumors and incompletely differentiated sex cord stromal tumors.
abstract: BACKGROUND
  Recently a somatic point mutation in the FOXL2 gene has been characterized in ovarian adult type of granulosa cell tumor (ATGCT) (94.6%), thecomas (12.5%), but not in juvenile type of ovarian granulosa cell tumor, other ovarian sex cord tumors and ovarian surface epithelial neoplasms. Whether this mutation is present in testicular ATGCT or incompletely differentiated sex cord stromal tumor (ISCST) is not known.
  
  
  METHODS
  Four ATGCTs, 4 ISCST were immunohistochemically investigated with anti-FOXL2 and 3 ovarian ATGCTs were used as positive control.
  
  
  RESULTS
  Weak-to-moderate immunoreactivity was found in all tested testicular and ovarian tumors. PCR and direct sequencing were used for detection of c.402C>G of the FOXL2 gene. No mutation was found in any of the testicular ATGCTs or ISCSTs whereas all ovarian tumors showed the c.402C>G point mutation of the FOXL2 gene.
  
  
  CONCLUSIONS
  On the basis of this small series of these rare testicular neoplasms, it seems that the c.402C>G mutation of the FOXL2 gene frequently found in adult type of ovarian GCT does not play any significant role in the development of ATGCT and ISCST.
authors.affiliation: Department of Special Diagnostics, Charles University and University Hospital Plzen, Plzen, Czech Republic. hes@medima.cz
authors.forename: Ondřej
authors.initials: O
authors.lastname: Hes
authors.forename: Tomáš
authors.initials: T
authors.lastname: Vaněček
authors.forename: Fredrik
authors.initials: F
authors.lastname: Petersson
authors.forename: Petr
authors.initials: P
authors.lastname: Grossmann
authors.forename: Milan
authors.initials: M
authors.lastname: Hora
authors.forename: Delia M
authors.initials: DM
authors.lastname: Perez Montiel
authors.forename: Petr
authors.initials: P
authors.lastname: Steiner
authors.forename: Miroslav
authors.initials: M
authors.lastname: Dvořák
authors.forename: Michal
authors.initials: M
authors.lastname: Michal
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002454:Cell Differentiation; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics / Q000378:metabolism*; D056726:Genetic Association Studies; D006106:Granulosa Cell Tumor / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation / Q000235:genetics; D018312:Sex Cord-Gonadal Stromal Tumors / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D013736:Testicular Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors