Analysis of β-catenin expression and exon 3 mutations in pediatric sporadic aggressive fibromatosis

Pediatr Dev Pathol. 2012 May-Jun;15(3):173-8. doi: 10.2350/10-07-0866-OA.1.

Abstract

Aggressive fibromatosis is a benign tumor with a high recurrence rate after surgical resection, particularly in children. Abnormal regulation of β-catenin in the presence or absence of a change of genotype has been identified in adult sporadic aggressive fibromatosis. However, the status of β-catenin expression and mutation remains unclear in pediatric patients. The present study was designed to analyze the expression and mutation status of β-catenin in pediatric aggressive fibromatosis. B-catenin expression was analyzed by immunohistochemistry in 32 samples from pediatric patients with aggressive fibromatosis (21 recurrent cases and 11 primary-onset cases) and 15 control subjects. Somatic point mutations in β-catenin exon 3 were identified by sequencing of polymerase chain reaction products. Nuclear expression of β-catenin was detected in 94% (30/32) of aggressive fibromatosis samples and 13% (2/15) of control samples (P < 0.001). Mutations in exon 3 of the β-catenin gene were identified in 78% (25/32) of aggressive fibromatosis samples (19/21 recurrent cases, 6/11 primary-onset cases; P = 0.032). The primary mutation in the recurrent cases occurred at codon 45 (S45F), while codon 41 (T41A) was most frequently mutated in the primary-onset cases (P = 0.002). Abnormal expression of β-catenin appears to occur frequently in pediatric aggressive fibromatosis. Muftations in exon 3 of the β-catenin gene, particularly the S45F mutation, may represent risk factors for recurrence in pediatric patients and could potentially be used as prognostic factors.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Fibromatosis, Aggressive / genetics
  • Fibromatosis, Aggressive / metabolism*
  • Humans
  • Immunohistochemistry
  • Male
  • Point Mutation*
  • Reverse Transcriptase Polymerase Chain Reaction
  • beta Catenin / biosynthesis*
  • beta Catenin / genetics*

Substances

  • CTNNB1 protein, human
  • beta Catenin