Low frequency of beta-catenin gene mutations in pilomatricoma

Acta Derm Venereol. 2002;82(6):428-31. doi: 10.1080/000155502762064557.


We investigated beta-catenin and adenomatous polyposis coli (APC) gene abnormalities in human pilomatricoma, in which a high incidence of beta-catenin gene mutations has been reported. Nucleated tumour cells were microdissected from 20 paraffin-embedded pilomatricomas. Exon 3 of the beta-catenin gene was amplified using polymerase chain reaction and sequencing analysis was performed. Immunostaining for beta-catenin and lymphoid-enhancer factor-1 was performed using the avidin-biotin-peroxidase method. Dinucleotide repeat markers D5S409 and D5S299 were used for polymerase chain reaction-based microsatellite analysis of the APC gene. The mutation cluster region of the APC gene was amplified using polymerase chain reaction and sequenced. Sequencing analysis revealed beta-catenin gene mutations in 30%. All studied samples showed nuclear lymphoid-enhancer factor-1 and cytoplasmic/nuclear beta-catenin expression. Loss of heterozygosity was observed in the APC gene, but no mutations in the mutation cluster region were found in seven tumours without beta-catenin mutations. The frequency of beta-catenin gene mutations was remarkably low, thus suggesting (i) the presence of mutations in other than exon 3 of the beta-catenin gene, (ii) a possible role of APC gene abnormalities, or (iii) involvement of other components of the Wingless-type MMTV integration site family pathway.

MeSH terms

  • Adolescent
  • Adult
  • Cadherins / genetics
  • Cadherins / metabolism
  • Child
  • Cytoskeletal Proteins / genetics*
  • Cytoskeletal Proteins / metabolism
  • DNA Mutational Analysis / methods
  • DNA Primers
  • DNA, Neoplasm / analysis*
  • Exons / genetics
  • Female
  • Genes, APC
  • Hair Diseases / genetics*
  • Hair Diseases / metabolism
  • Hair Diseases / pathology
  • Humans
  • Infant
  • Loss of Heterozygosity / genetics
  • Male
  • Middle Aged
  • Mutation*
  • Pilomatrixoma / genetics*
  • Pilomatrixoma / metabolism
  • Pilomatrixoma / pathology
  • Polymerase Chain Reaction
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / metabolism
  • Skin Neoplasms / pathology
  • Trans-Activators / genetics*
  • Trans-Activators / metabolism
  • beta Catenin


  • CTNNB1 protein, human
  • Cadherins
  • Cytoskeletal Proteins
  • DNA Primers
  • DNA, Neoplasm
  • Trans-Activators
  • beta Catenin