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Biomarkers in Anal Cancer: Current Status in Diagnosis, Disease Progression and Therapeutic Strategies

Squamous cell carcinoma of the anal canal (SCCA) is a rare neoplasm, but with rising incidence rates in the past few decades; it is etiologically linked with the human papillomavirus (HPV) infection and is especially prevalent in immunocompromised patients, mainly those infected with HIV. Fluoropyri...

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Autores principales: Mathias-Machado, Maria Cecília, Peixoto, Renata D’Alpino, Moniz, Camila Motta Venchiarutti, Jácome, Alexandre A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9405643/
https://www.ncbi.nlm.nih.gov/pubmed/36009576
http://dx.doi.org/10.3390/biomedicines10082029
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author Mathias-Machado, Maria Cecília
Peixoto, Renata D’Alpino
Moniz, Camila Motta Venchiarutti
Jácome, Alexandre A.
author_facet Mathias-Machado, Maria Cecília
Peixoto, Renata D’Alpino
Moniz, Camila Motta Venchiarutti
Jácome, Alexandre A.
author_sort Mathias-Machado, Maria Cecília
collection PubMed
description Squamous cell carcinoma of the anal canal (SCCA) is a rare neoplasm, but with rising incidence rates in the past few decades; it is etiologically linked with the human papillomavirus (HPV) infection and is especially prevalent in immunocompromised patients, mainly those infected with HIV. Fluoropyrimidine-based chemoradiotherapy remains the cornerstone of the treatment of non-metastatic disease, but the locally advanced disease still presents high rates of disease recurrence and systemic therapy of SCCA is an unmet clinical need. Despite sharing common molecular aspects with other HPV-related malignancies, such as cervical and head and neck cancers, SCCA presents specific epigenomic, genomic, and transcriptomic abnormalities, which suggest that genome-guided personalized therapies should be specifically designed for this disease. Actionable mutations are rare in SCCA and immune checkpoint inhibition has not yet been proven useful in an unselected population of patients. Therefore, advances in systemic therapy of SCCA will only be possible with the identification of predictive biomarkers and the subsequent development of targeted therapies or immunotherapeutic approaches that consider the unique tumor microenvironment and the intra- and inter-tumoral heterogeneity. In the present review, we address the molecular characterization of SCCA and discuss potential diagnostic, predictive and prognostic biomarkers of this complex and challenging disease.
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spelling pubmed-94056432022-08-26 Biomarkers in Anal Cancer: Current Status in Diagnosis, Disease Progression and Therapeutic Strategies Mathias-Machado, Maria Cecília Peixoto, Renata D’Alpino Moniz, Camila Motta Venchiarutti Jácome, Alexandre A. Biomedicines Review Squamous cell carcinoma of the anal canal (SCCA) is a rare neoplasm, but with rising incidence rates in the past few decades; it is etiologically linked with the human papillomavirus (HPV) infection and is especially prevalent in immunocompromised patients, mainly those infected with HIV. Fluoropyrimidine-based chemoradiotherapy remains the cornerstone of the treatment of non-metastatic disease, but the locally advanced disease still presents high rates of disease recurrence and systemic therapy of SCCA is an unmet clinical need. Despite sharing common molecular aspects with other HPV-related malignancies, such as cervical and head and neck cancers, SCCA presents specific epigenomic, genomic, and transcriptomic abnormalities, which suggest that genome-guided personalized therapies should be specifically designed for this disease. Actionable mutations are rare in SCCA and immune checkpoint inhibition has not yet been proven useful in an unselected population of patients. Therefore, advances in systemic therapy of SCCA will only be possible with the identification of predictive biomarkers and the subsequent development of targeted therapies or immunotherapeutic approaches that consider the unique tumor microenvironment and the intra- and inter-tumoral heterogeneity. In the present review, we address the molecular characterization of SCCA and discuss potential diagnostic, predictive and prognostic biomarkers of this complex and challenging disease. MDPI 2022-08-20 /pmc/articles/PMC9405643/ /pubmed/36009576 http://dx.doi.org/10.3390/biomedicines10082029 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Mathias-Machado, Maria Cecília
Peixoto, Renata D’Alpino
Moniz, Camila Motta Venchiarutti
Jácome, Alexandre A.
Biomarkers in Anal Cancer: Current Status in Diagnosis, Disease Progression and Therapeutic Strategies
title Biomarkers in Anal Cancer: Current Status in Diagnosis, Disease Progression and Therapeutic Strategies
title_full Biomarkers in Anal Cancer: Current Status in Diagnosis, Disease Progression and Therapeutic Strategies
title_fullStr Biomarkers in Anal Cancer: Current Status in Diagnosis, Disease Progression and Therapeutic Strategies
title_full_unstemmed Biomarkers in Anal Cancer: Current Status in Diagnosis, Disease Progression and Therapeutic Strategies
title_short Biomarkers in Anal Cancer: Current Status in Diagnosis, Disease Progression and Therapeutic Strategies
title_sort biomarkers in anal cancer: current status in diagnosis, disease progression and therapeutic strategies
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9405643/
https://www.ncbi.nlm.nih.gov/pubmed/36009576
http://dx.doi.org/10.3390/biomedicines10082029
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