TERTp mutations and p53 expression in head and neck cutaneous basal cell carcinomas with different aggressive features

Abstract 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...

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Autores principales:	António Castanheira, Maria João Vieira, Mafalda Pinto, Carolina Dias, Luísa Prada, Sofia Macedo, Margarida Sá Fernandes, Fortunato Vieira, Paula Soares, Alberto Mota, José Manuel Lopes, Paula Boaventura
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/11b0c3808fd0411c92da54a70d584677
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spelling	oai:doaj.org-article:11b0c3808fd0411c92da54a70d5846772021-12-02T14:59:12ZTERTp mutations and p53 expression in head and neck cutaneous basal cell carcinomas with different aggressive features10.1038/s41598-021-89906-w2045-2322https://doaj.org/article/11b0c3808fd0411c92da54a70d5846772021-05-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-89906-whttps://doaj.org/toc/2045-2322Abstract 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.António CastanheiraMaria João VieiraMafalda PintoCarolina DiasLuísa PradaSofia MacedoMargarida Sá FernandesFortunato VieiraPaula SoaresAlberto MotaJosé Manuel LopesPaula BoaventuraNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q António Castanheira Maria João Vieira Mafalda Pinto Carolina Dias Luísa Prada Sofia Macedo Margarida Sá Fernandes Fortunato Vieira Paula Soares Alberto Mota José Manuel Lopes Paula Boaventura TERTp mutations and p53 expression in head and neck cutaneous basal cell carcinomas with different aggressive features
description	Abstract 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.
format	article
author	António Castanheira Maria João Vieira Mafalda Pinto Carolina Dias Luísa Prada Sofia Macedo Margarida Sá Fernandes Fortunato Vieira Paula Soares Alberto Mota José Manuel Lopes Paula Boaventura
author_facet	António Castanheira Maria João Vieira Mafalda Pinto Carolina Dias Luísa Prada Sofia Macedo Margarida Sá Fernandes Fortunato Vieira Paula Soares Alberto Mota José Manuel Lopes Paula Boaventura
author_sort	António Castanheira
title	TERTp mutations and p53 expression in head and neck cutaneous basal cell carcinomas with different aggressive features
title_short	TERTp mutations and p53 expression in head and neck cutaneous basal cell carcinomas with different aggressive features
title_full	TERTp mutations and p53 expression in head and neck cutaneous basal cell carcinomas with different aggressive features
title_fullStr	TERTp mutations and p53 expression in head and neck cutaneous basal cell carcinomas with different aggressive features
title_full_unstemmed	TERTp mutations and p53 expression in head and neck cutaneous basal cell carcinomas with different aggressive features
title_sort	tertp mutations and p53 expression in head and neck cutaneous basal cell carcinomas with different aggressive features
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/11b0c3808fd0411c92da54a70d584677
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TERTp mutations and p53 expression in head and neck cutaneous basal cell carcinomas with different aggressive features

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