Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis
| Autor: | Tania Tabone, Benjamin A. Wood, Nathan T. Harvey, Wendy N. Erber |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Male
Pathology medicine.medical_specialty Sebaceous Gland Neoplasm DNA Mutational Analysis Biology Malignancy medicine.disease_cause Sebaceoma Pathology and Forensic Medicine Sebaceous adenoma Proto-Oncogene Proteins p21(ras) 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine CDKN2A medicine Biomarkers Tumor Humans Sebaceous Gland Neoplasms Cyclin-Dependent Kinase Inhibitor p16 beta Catenin Aged Aged 80 and over High-Throughput Nucleotide Sequencing Middle Aged medicine.disease Immunohistochemistry ErbB Receptors Proto-Oncogene Proteins c-bcl-2 030220 oncology & carcinogenesis Cancer research Female KRAS Tumor Suppressor Protein p53 Sebaceous carcinoma |
| Zdroj: | Pathology. 48(5) |
| ISSN: | 1465-3931 |
| Popis: | Sebaceous neoplasms encompass a range of lesions, including benign entities such as sebaceous adenoma and sebaceoma, as well as sebaceous carcinoma. The distinction of sebaceous carcinoma from benign lesions relies on histological identification of architectural or cytological features of malignancy. In this study we have assessed the diagnostic discriminatory ability of mitotic rate and immunohistochemical markers (p53, bcl-2 and p16) in a selected group of well circumscribed sebaceous neoplasms, incorporating examples of sebaceous adenoma, sebaceoma and sebaceous carcinoma. We found that mitotic rate was significantly higher in malignant lesions as compared to benign lesions, but none of the immunohistochemical markers showed a discriminatory expression pattern. In addition, we performed a mutational analysis on the same group of lesions using next generation sequencing (NGS) technology. The most commonly mutated gene was TP53, although there was no correlation between the p53 immunohistochemical results and number or type of TP53 mutation detected. CDKN2A, EGFR, CTNNB1 and KRAS were also commonly mutated across all lesions. No particular gene, mutation profile or individual mutation could be identified which directly correlated with the consensus histological diagnosis. In conclusion, within this diagnostically challenging group of lesions, mitotic activity, but not immunohistochemical labelling for p16 or bcl-2, correlates with diagnostic category. While a number of genes potentially involved in the genesis of sebaceous neoplasia were uncovered, any molecular differences between the histological diagnostic categories remain unclear. |
| Databáze: | OpenAIRE |
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