title: Beta-catenin mutation does not seem to have an effect on the tumorigenesis of pediatric rhabdomyosarcomas.
abstract: Involvement of the Wnt signal transduction pathway has been shown in different pediatric embryonal tumors, such as hepatoblastoma, nephroblastoma, pancreatoblastoma, and medulloblastoma. There are few data available on the status of beta-catenin in rhabdomyosarcoma (RMS), another pediatric embryonal tumor. The aims of this study were 1st to verify the status of the exon 3 of CTNNB1 and 2nd to assess the usefulness of beta-catenin immunostaining in a small series of 8 embryonal RMS, 3 alveolar RMS, and 1 sclerosing RMS (SRMS). Sequence analysis revealed no mutations in the exon 3 of CTNNB1 in all the tumors studied. All RMS showed a cytoplasmic beta-catenin staining with cytoplasmic membrane reinforcement and no nuclear delocalization. We conclude that there is no evidence of beta-catenin mutation in the genesis of rhabdomyosarcoma and that beta-catenin does not represent a useful immunomarker to help distinguish between embryonal RMS and alveolar RMS.
authors.affiliation: Departments of Pathology, CHU Sainte-Justine, 3175 chemin de la Côte Sainte-Catherine, Montréal, QC, Canada. dorothee.dal_soglio.hsj@ssss.gouv.qc.ca
authors.forename: Dorothée
authors.initials: D
authors.lastname: Bouron-Dal Soglio
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Rougemont
authors.forename: Riwa
authors.initials: R
authors.lastname: Absi
authors.forename: Louise-Marie
authors.initials: LM
authors.lastname: Giroux
authors.forename: Rocio
authors.initials: R
authors.lastname: Sanchez
authors.forename: Stéphane
authors.initials: S
authors.lastname: Barrette
authors.forename: Jean-Christophe
authors.initials: JC
authors.lastname: Fournet
mesh_terms: D000293:Adolescent; D014408:Biomarkers, Tumor / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D018232:Rhabdomyosarcoma, Alveolar / Q000235:genetics* / Q000473:pathology*; D018233:Rhabdomyosarcoma, Embryonal / Q000235:genetics* / Q000473:pathology*; D051176:beta Catenin / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; D051176:beta Catenin