Low frequency of β-catenin gene mutations in pilomatricoma

被引:14
作者
Ha, SJ
Kim, JS
Seo, EJ
Lee, KH
Lee, HJ
Kim, JW
机构
[1] Catholic Univ Korea, Dept Clin Pathol, Coll Med, Seoul, South Korea
[2] Catholic Univ Korea, Dept Dermatol, Coll Med, Seoul, South Korea
关键词
adenomatous polyposis coli gene; exon; 3; loss of heterozygosity;
D O I
10.1080/000155502762064557
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
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.
引用
收藏
页码:428 / 431
页数:4
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