UV-Independent p53 Mutations in Sebaceous Carcinoma of the Eyelid
- 1 September 2014
- journal article
- research article
- Published by Ovid Technologies (Wolters Kluwer Health) in Ophthalmic Plastic & Reconstructive Surgery
- Vol. 30 (5), 392-395
- https://doi.org/10.1097/iop.0000000000000121
Abstract
Purpose: Sebaceous carcinoma of the eyelid is a potentially fatal malignancy that has been associated with p53 gene mutations. The purpose of this study is to determine the frequency of p53 mutations in sebaceous carcinoma of the eyelid and to determine whether there is any relationship between the presence of p53 mutations and tumor invasiveness. Methods: Retrospective case series. Fourteen samples of sebaceous carcinoma that had been resected from Caucasian patients between 1994 and 2010 were analyzed for p53 gene mutations with PCR and Sequencher software. Patient charts were reviewed to draw clinicopathologic correlations in relation with the presence of p53 gene mutations. Results: Seven of 14 (50%) sebaceous carcinoma samples were found to have p53 gene mutations. None of the samples had tandem mutations, which are caused by UV exposure. No statistically significant trend was found between the presence of p53 mutations and metastasis, recurrence, tumor size, TNM stage, and pagetoid spread. There was a similar frequency of p53 gene mutations found in stage T1, T2, and T3 tumors. Conclusions: p53 Mutations are found in a high percentage of sebaceous carcinomas in the Caucasian population. The absence of tandem mutations is consistent with the belief that sebaceous carcinoma develops as a UV-independent process. There does not appear to be a significant correlation between the presence of p53 mutations and tumor size, recurrence, metastasis, pagetoid spread, or location. The similar frequency of p53 mutations in both low- and high-stage tumors implies that p53 gene mutations may be involved in early stages of carcinogenesis of sebaceous carcinoma.Keywords
This publication has 11 references indexed in Scilit:
- Early onset sebaceous carcinomaDiagnostic Pathology, 2011
- Analysis of p53 Mutations and the Expression of p53 and p21WAF1/CIP1Protein in 15 Cases of Sebaceous Carcinoma of the EyelidInvestigative Ophthalmology & Visual Science, 2010
- Ten cases of sebaceous carcinoma arising in nevus sebaceusThe Journal of Dermatology, 2008
- Sebaceous carcinoma of the eyelids: Personal experience with 60 casesOphthalmology, 2004
- Expression of Cell Proliferation and Apoptosis Markers in Papillomas and Cancers of Conjunctiva and EyelidAnnals of the New York Academy of Sciences, 2004
- Sebaceous carcinoma of the eyelid associated with retinoblastomaOphthalmology, 2001
- Improving the Detection of p53 Mutations in Breast Cancer by Use of the FASAY, a Functional AssayThe Journal of Molecular Diagnostics, 2000
- Sebaceous Cell Carcinoma of the Eyelid and the Human Immunodeficiency VirusOphthalmic Plastic & Reconstructive Surgery, 2000
- Sebaceous carcinoma: Tumor progression through mutational inactivation of p53Ophthalmology, 1998
- Structure and Function of the p53 Tumor Suppressor Gene: Clues for Rational Cancer Therapeutic StrategiesJNCI Journal of the National Cancer Institute, 1996