title: Low frequency of beta-catenin gene mutations in pilomatricoma.
abstract: 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.
authors.affiliation: Department of Dermatology, College of Medicine, St. Paul's Hospital, The Catholic University of Korea, Seoul, Korea.
authors.forename: Seog-Jun
authors.initials: SJ
authors.lastname: Ha
authors.forename: Jung-Soo
authors.initials: JS
authors.lastname: Kim
authors.forename: Eun-Joo
authors.initials: EJ
authors.lastname: Seo
authors.forename: Kyung-Ho
authors.initials: KH
authors.lastname: Lee
authors.forename: Hyun-Jeong
authors.initials: HJ
authors.lastname: Lee
authors.forename: Jin-Wou
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D015820:Cadherins / Q000235:genetics / Q000378:metabolism; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis / Q000379:methods; D017931:DNA Primers; D004273:DNA, Neoplasm / Q000032:analysis*; D005091:Exons / Q000235:genetics; D005260:Female; D017491:Genes, APC; D006201:Hair Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007223:Infant; D019656:Loss of Heterozygosity / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018296:Pilomatrixoma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D016133:Polymerase Chain Reaction; D012878:Skin Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D015534:Trans-Activators / Q000235:genetics* / Q000378:metabolism; D051176:beta Catenin
chemical_list: C495270:CTNNB1 protein, human; D015820:Cadherins; D003598:Cytoskeletal Proteins; D017931:DNA Primers; D004273:DNA, Neoplasm; D015534:Trans-Activators; D051176:beta Catenin