TERTp mutations and p53 expression in head and neck cutaneous basal cell carcinomas with different aggressive features
| Autor: | Mafalda Pinto, Luísa Prada, Paula Soares, Carolina Dias, Fortunato Vieira, Margarida Sá Fernandes, José Manuel Lopes, António Castanheira, Alberto Mota, Sofia Macedo, Paula Boaventura, Maria João Vieira |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Male
Oncology medicine.medical_specialty Skin Neoplasms Necrosis Science medicine.disease_cause Article Internal medicine medicine Skin cancer Humans Basal cell carcinoma Promoter Regions Genetic Cancer genetics Telomerase Cancer Aged Mutation Multidisciplinary business.industry Incidence (epidemiology) medicine.disease Gene Expression Regulation Neoplastic Carcinoma Basal Cell Head and Neck Neoplasms Cohort Immunohistochemistry Medicine Female Tumor Suppressor Protein p53 medicine.symptom business |
| Zdroj: | Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021) Scientific Reports |
| ISSN: | 2045-2322 |
| Popis: | Cutaneous basal cell carcinoma (cBCC) is an economic burden to health services, due to its great morbidity and increasing incidence in old people. Infiltrative cBCCs and cBCCs with micronodular pattern are considered as more aggressive. The role of p53 expression and TERTp mutation on cBCC behavior remains to be clarified. We aimed to assess TERTp mutations and p53 expression in relation to the cBCC histological subtype in a cohort of patients referred to an ENT Department of a tertiary Hospital of Northern Portugal. We performed a retrospective clinicopathological and histological review of the head and neck cBCCs followed-up at the otorhinolaryngology department of Trás-os-Montes e Alto Douro hospital (January 2007–June 2018). We assessed TERTp mutations in 142 cBCCs and p53 protein expression, through immunohistochemistry, in 157 cBCCs. We detected TERTp mutations in 43.7% of cBCCs and p53 overexpression in 60.5% of cBCCs. We spotted association of p53 overexpression and TERTp mutation with necrosis. In the infitrative-growth pattern cBCCs, there was no significant association with the clinical and histological features evaluated, except for necrosis. In the indolent-growth cBCCs, we identified a significant association of TERTp mutation status with female sex, necrosis, multiple cBCCs, and p53 positive expression. Our results suggest that TERTp mutation may be useful to identify more aggressive features in the indolent-growth pattern cBCCs (nodular and superficial subtypes). Further studies with larger cohorts are warranted to clarify the relevance of TERTp mutation in cBCCs. |
| Databáze: | OpenAIRE |
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