Abnormalities of beta-Catenin Gene in Pilomatricomas / 대한피부과학회지
Korean Journal of Dermatology
;
: 14-18, 2002.
Article
in Korean
| WPRIM
| ID: wpr-66529
ABSTRACT
BACKGROUND:
beta-Catenin muations were reported to play a causal role in the development of pilomatricomas. In a recent study in Caucasians, 75% of pilomatricomas had beta-Catenin mutations.OBJECTIVE:
We investigated the causal role of beta-Catenin gene mutations in pilomatricomas of Koreans.METHODS:
This study included 20 formalin-fixed, paraffin-embedded pilomatricomas in Koreans. Basophilic nucleated tumor cells were microdissected and, as normal controls, infiltrating inflammatory lymphocytes were microdissected from the same histologic specimens. Sequencing analysis of exon 3 of the beta-Catenin gene (CTNNB1) was performed. Immunostaining for beta-Catenin and Lef-1 was performed by the avidin-biotin-peroxidase method.RESULTS:
Sequencing analysis found missense mutations (S37Y, S37C, S33C, S33F, and S37F) in CTNNB1 in 6 samples (30%) of 20 pilomatricomas. All pilomatricomas revealed intense expression of nuclear Lef-1 and nuclear and cytoplasmic beta-Catenin.CONCLUSION:
Frequencies of beta-Catenin mutations were lower in our study compared with the results in Caucasians. The immunohistochemical results suggest the abnormalities in Wnt-wingless pathway resulting in stabilization or constitutive expression of beta-Catenin, but the absence of CTNNB1 mutations in 70% of our cases suggests adenomatous polyposis coli gene inactivation, or the involvement of other components of the Wnt-wingless pathway.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Basophils
/
Lymphocytes
/
Exons
/
Pilomatrixoma
/
Adenomatous Polyposis Coli
/
Mutation, Missense
/
Gene Silencing
/
Cytoplasm
/
Beta Catenin
Language:
Korean
Journal:
Korean Journal of Dermatology
Year:
2002
Type:
Article
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