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

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Cancer Biology and Oncology".

Deadline for manuscript submissions: closed (30 June 2023) | Viewed by 6420

Special Issue Editors

Dr. Patrizia Bonelli

E-Mail Website
Guest Editor
Molecular Biology and Viral Oncology Unit, Istituto Nazionale Tumori IRCCS Fondazione G. Pascale, 80131 Napoli, Italy
Interests: molecular oncology; biomarkers; HPV-related cancers; gene expression profiles; post-transcriptional regulation
Dr. Maria Lina Tornesello

E-Mail
Guest Editor
Molecular Biology and Viral Oncology Unit, Istituto Nazionale Tumori IRCCS Fondazione G. Pascale, 80131 Napoli, Italy
Interests: viral oncology; human papillomavirus; genital cancer; oropharyngeal cancer; gene mutation; single nucleotide polymorphisms
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The carcinoma of the anal canal is a rare cancer of the anogenital tract, comprising 2–3% of all gastrointestinal malignancies, with approximately 50,000 new cases and 19,000 deaths in 2020 worldwide. Anal squamous cell carcinoma (ASCC) is the most common histological type and its development is mainly associated with high risk human papillomavirus (HPV) infection and other risk factors including cigarette smoking, HIV infection, genital warts, and lifetime number of sexual partners. The biological characterization of anal cancer has only recently been investigated. Some molecular markers have been used as predictors of response to chemo- and radiotherapy, and also to modulate response rates to avoid excessive toxicity. The study of molecular markers such as epidermal growth factor receptor (EGFR), MET proto-oncogene, receptor tyrosine kinase (MET), vascular endothelial growth factor receptor 1 (VEGFR1), cyclin-dependent kinase inhibitor 2A (CDKN2A), and Erb-B2 receptor tyrosine kinase 2 (ERBB2), as well as the analysis of gene mutations, provided promising results—particularly for the use of new specific target therapeutic agents. In addition, several clinical trials based on the use of immunotherapeutic and HPV-based vaccine approaches in the locally advanced and metastatic anal cancer are ongoing.

This Special Issue will focus on the state of the art of the molecular characterization of anal cancer, with particular reference to the use of innovative biomarkers for the diagnosis, disease progression, and development of new therapeutic strategies.

Dr. Patrizia Bonelli
Dr. Maria Lina Tornesello
Guest Editors

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Keywords

  • anal cancer
  • biomarkers
  • molecular characterization
  • HPV infection
  • genetics
  • epigenetics
  • gene expression
  • post-transcriptional regulation
  • advances in anal cancer therapies

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Published Papers (2 papers)

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14 pages, 1304 KiB  
Article
Prognostic Factors of Long-Term Outcomes after Primary Chemo-Radiotherapy in Non-Metastatic Anal Squamous Cell Carcinoma: An International Bicentric Cohort
by Soledad Iseas, Diego Prost, Sarah Bouchereau, Mariano Golubicki, Juan Robbio, Ana Oviedo, Mariana Coraglio, Mirta Kujaruk, Guillermo Méndez, Marcela Carballido, Enrique Roca, Louis Gros, Vincent De Parades, Nabil Baba-Hamed, Julien Adam, Martín Carlos Abba and Eric Raymond
Biomedicines 2023, 11(3), 791; https://doi.org/10.3390/biomedicines11030791 - 6 Mar 2023
Cited by 2 | Viewed by 1665
Abstract
Anal squamous cell carcinoma (ASCC) is a rare malignancy with a rising incidence associated with human papillomavirus (HPV) infection. The locally advanced disease is associated with a 30% rate of treatment failure after standard chemoradiotherapy (CRT). We aimed to elucidate the prognostic factors [...] Read more.
Anal squamous cell carcinoma (ASCC) is a rare malignancy with a rising incidence associated with human papillomavirus (HPV) infection. The locally advanced disease is associated with a 30% rate of treatment failure after standard chemoradiotherapy (CRT). We aimed to elucidate the prognostic factors for ASCC after curative CRT. A retrospective multicenter study of 176 consecutive patients with ASCC having completed CRT treated between 2010 and 2017 at two centers was performed. Complete response (CR), disease-free survival (DFS), and overall survival (OS) were analyzed by Kaplan–Meier estimates with log-rank tests. The hierarchical clustering on principal components (HCPC) method was employed in an unsupervised and multivariate approach. The CR rate was 70% and was predictive of DFS (p < 0.0001) and OS (p < 0.0001), where non-CR cases were associated with shorter DFS (HR = 16.5, 95% CI 8.19–33.21) and OS (HR = 8.42, 95% CI 3.77–18.81) in a univariate analysis. The median follow-up was 38 months, with a 3-year DFS of 71%. The prognostic factors for DFS were cT1-T2 (p = 0.0002), N0 (p = 0.035), HIV-positive (p = 0.047), HIV-HPV coinfection (p = 0.018), and well-differentiated tumors (p = 0.037). The three-year OS was 81.6%. Female sex (p = 0.05), cT1-T2 (p = 0.02) and well-differentiated tumors (p = 0.003) were associated with better OS. The unsupervised analysis demonstrated a clear segregation of patients in three clusters, identifying that poor prognosis clusters associated with shorter DFS (HR = 1.74 95% CI = 1.25–2.42, p = 0.0008) were enriched with the locally advanced disease, anal canal location, HIV-HPV coinfection, and non-CR. In conclusion, our results reinforce the prognostic value of T stage, N stage, sex, differentiation status, tumor location, and HIV-HPV coinfection in ASCC after CRT. Full article
(This article belongs to the Special Issue Biomarkers in Anal Cancer: Current Status in Diagnosis, Disease Progression and Therapeutic Strategies)
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Review

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14 pages, 905 KiB  
Review
Biomarkers in Anal Cancer: Current Status in Diagnosis, Disease Progression and Therapeutic Strategies
by Maria Cecília Mathias-Machado, Renata D’Alpino Peixoto, Camila Motta Venchiarutti Moniz and Alexandre A. Jácome
Biomedicines 2022, 10(8), 2029; https://doi.org/10.3390/biomedicines10082029 - 20 Aug 2022
Cited by 4 | Viewed by 3748
Abstract
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue Biomarkers in Anal Cancer: Current Status in Diagnosis, Disease Progression and Therapeutic Strategies)
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