RGD Reference Report - Analysis of p53 mutations and the expression of p53 and p21WAF1/CIP1 protein in 15 cases of sebaceous carcinoma of the eyelid. - Rat Genome Database

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Analysis of p53 mutations and the expression of p53 and p21WAF1/CIP1 protein in 15 cases of sebaceous carcinoma of the eyelid.

Authors: Kiyosaki, K  Nakada, C  Hijiya, N  Tsukamoto, Y  Matsuura, K  Nakatsuka, K  Daa, T  Yokoyama, S  Imaizumi, M  Moriyama, M 
Citation: Kiyosaki K, etal., Invest Ophthalmol Vis Sci. 2010 Jan;51(1):7-11. doi: 10.1167/iovs.09-4127. Epub 2009 Jul 23.
RGD ID: 8661799
Pubmed: PMID:19628749   (View Abstract at PubMed)
DOI: DOI:10.1167/iovs.09-4127   (Journal Full-text)

PURPOSE: The purpose of this study was to detect mutation of the p53 gene, to assess its relationship with p53 or p21(WAF1/CIP1) expression, and to evaluate the correlation between p53 mutation or p21(WAF1/CIP1) expression and clinicopathologic findings in sebaceous carcinoma of the eyelid. METHODS: Fifteen conventional paraffin-embedded samples of sebaceous carcinoma of the eyelid were analyzed. Using the single-strand conformation polymorphism technique, the authors sequenced coding exons 5-8 of the p53 gene. The expression of p53 and p21(WAF1/CIP1) protein was analyzed by immunohistochemistry. RESULTS: In 10 of the 15 cases (66.7%), point mutations were detected in the p53 gene. CC to TT double-base changes (tandem mutations), which are known to be induced only by UV, were not detected in any of the mutations. Correlations between p53 mutation and expression were found to be statistically significant (P = 0.007). There was no significant correlation between p53 mutation and clinicopathologic findings or p21(WAF1/CIP1) expression. However, there was a significant inverse correlation between p21(WAF1/CIP1) expression and presence of lymph node metastasis (P = 0.007). CONCLUSIONS: Among human cancers, sebaceous carcinoma of the eyelid may be one of those showing most frequent mutation of the p53 gene, which may not be caused by exposure to UV. p21(WAF1/CIP1) downregulation may be associated with lymph node metastasis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Lymphatic Metastasis  IEP 8661799associated with Eyelid NeoplasmsRGD 
Lymphatic Metastasis  ISOCDKN1A (Homo sapiens)8661799; 8661799associated with Eyelid NeoplasmsRGD 

Objects Annotated

Genes (Rattus norvegicus)
Cdkn1a  (cyclin-dependent kinase inhibitor 1A)

Genes (Mus musculus)
Cdkn1a  (cyclin dependent kinase inhibitor 1A)

Genes (Homo sapiens)
CDKN1A  (cyclin dependent kinase inhibitor 1A)


Additional Information