Jemal, A. et al. Annual report to the nation on the status of cancer, 1975-2009, featuring the burden and trends in human papillomavirus (HPV)-associated cancers and HPV vaccination coverage levels. J. Natl Cancer Inst. 105, 175–201 (2013).
Article PubMed PubMed Central Google Scholar
Gondal, T. A. et al. Anal cancer: the past, present and future. Curr. Oncol. 30, 3232–3250 (2023).
Article PubMed PubMed Central Google Scholar
James, R. D. et al. Mitomycin or cisplatin chemoradiation with or without maintenance chemotherapy for treatment of squamous-cell carcinoma of the anus (ACT II): a randomised, phase 3, open-label, 2 x 2 factorial trial. Lancet Oncol. 14, 516–524 (2013).
Article CAS PubMed Google Scholar
Glynne-Jones, R. et al. Best time to assess complete clinical response after chemoradiotherapy in squamous cell carcinoma of the anus (ACT II): a post-hoc analysis of randomised controlled phase 3 trial. Lancet Oncol. 18, 347–356 (2017).
Article PubMed PubMed Central Google Scholar
Deshmukh, A. A. et al. Incidence trends and burden of human papillomavirus-associated cancers among women in the United States, 2001-2017. J. Natl Cancer Inst. 113, 792–796 (2021).
Martin, D. et al. Anal squamous cell carcinoma — state of the art management and future perspectives. Cancer Treat. Rev. 65, 11–21 (2018).
Alemany, L. et al. Human papillomavirus DNA prevalence and type distribution in anal carcinomas worldwide. Int. J. Cancer 136, 98–107 (2015).
Article CAS PubMed Google Scholar
Morris, V. K. et al. Clinicopathologic features associated with human papillomavirus/p16 in patients with metastatic squamous cell carcinoma of the anal canal. Oncologist 20, 1247–1252 (2015).
Article CAS PubMed PubMed Central Google Scholar
Wagner, S. et al. Human papillomavirus-related head and neck cancer. Oncol. Res. Treat. 40, 334–340 (2017).
Article CAS PubMed Google Scholar
Armstrong, S. A. et al. Molecular characterization of squamous cell carcinoma of the anal canal. J. Gastrointest. Oncol. 12, 2423–2437 (2021).
Article PubMed PubMed Central Google Scholar
Aldersley, J., Lorenz, D. R., Mouw, K. W., D’Andrea, A. D. & Gabuzda, D. Genomic landscape of primary and recurrent anal squamous cell carcinomas in relation to HPV integration, copy-number variation, and DNA damage response genes. Mol. Cancer Res. 19, 1308–1321 (2021).
Article CAS PubMed PubMed Central Google Scholar
Zhu, X. et al. Molecular and immunophenotypic characterization of anal squamous cell carcinoma reveals distinct clinicopathologic groups associated with HPV and TP53 mutation status. Mod. Pathol. 34, 1017–1030 (2021).
Article CAS PubMed Google Scholar
Hamza, A. et al. Pathogenic alterations in PIK3CA and KMT2C are frequent and independent prognostic factors in anal squamous cell carcinoma treated with salvage abdominoperineal resection. Int. J. Cancer 154, 504–515 (2024).
Article CAS PubMed Google Scholar
Trilla-Fuertes, L. et al. Genetic profile and functional proteomics of anal squamous cell carcinoma: proposal for a molecular classification. Mol. Cell Proteom. 19, 690–700 (2020).
Morris, V. et al. Comprehensive genomic profiling of metastatic squamous cell carcinoma of the anal canal. Mol. Cancer Res. 15, 1542–1550 (2017).
Article CAS PubMed PubMed Central Google Scholar
Chung, J. H. et al. Comprehensive genomic profiling of anal squamous cell carcinoma reveals distinct genomically defined classes. Ann. Oncol. 27, 1336–1341 (2016).
Article CAS PubMed Google Scholar
Smaglo, B. G. et al. Comprehensive multiplatform biomarker analysis of 199 anal squamous cell carcinomas. Oncotarget 6, 43594–43604 (2015).
Article PubMed PubMed Central Google Scholar
Trilla-Fuertes, L. et al. Comprehensive characterization of the mutational landscape in localized anal squamous cell carcinoma. Transl. Oncol. 13, 100778 (2020).
Article PubMed PubMed Central Google Scholar
Iseas, S. et al. A clinical and molecular portrait of non-metastatic anal squamous cell carcinoma. Transl. Oncol. 14, 101084 (2021).
Article CAS PubMed PubMed Central Google Scholar
Glaviano, A. et al. PI3K/AKT/mTOR signaling transduction pathway and targeted therapies in cancer. Mol. Cancer 22, 138 (2023).
Article CAS PubMed PubMed Central Google Scholar
Cacheux, W. et al. Mutational analysis of anal cancers demonstrates frequent PIK3CA mutations associated with poor outcome after salvage abdominoperineal resection. Br. J. Cancer 114, 1387–1394 (2016).
Article CAS PubMed PubMed Central Google Scholar
Shin, M. K. et al. Activating mutations in Pik3ca contribute to anal carcinogenesis in the presence or absence of HPV-16 oncogenes. Clin. Cancer Res. 25, 1889–1900 (2019).
Article CAS PubMed Google Scholar
De Vuyst, H., Clifford, G. M., Nascimento, M. C., Madeleine, M. M. & Franceschi, S. Prevalence and type distribution of human papillomavirus in carcinoma and intraepithelial neoplasia of the vulva, vagina and anus: a meta-analysis. Int. J. Cancer 124, 1626–1636 (2009).
Meulendijks, D. et al. HPV-negative squamous cell carcinoma of the anal canal is unresponsive to standard treatment and frequently carries disruptive mutations in TP53. Br. J. Cancer 112, 1358–1366 (2015).
Article CAS PubMed PubMed Central Google Scholar
Bernardi, M. P. et al. Molecular biology of anal squamous cell carcinoma: implications for future research and clinical intervention. Lancet Oncol. 16, e611–e621 (2015).
Article CAS PubMed Google Scholar
Mouw, K. W. et al. Genomic evolution after chemoradiotherapy in anal squamous cell carcinoma. Clin. Cancer Res. 23, 3214–3222 (2017).
Article CAS PubMed Google Scholar
Johnson, B. E. et al. Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma. Science 343, 189–193 (2014).
Article CAS PubMed Google Scholar
Tchelebi, L. T. et al. Current treatment and future directions in the management of anal cancer. CA Cancer J. Clin. 72, 183–195 (2022).
Shao, C. et al. Prevalence of high tumor mutational burden and association with survival in patients with less common solid tumors. JAMA Netw. Open 3, e2025109 (2020).
Article PubMed PubMed Central Google Scholar
Salem, M. E. et al. Landscape of tumor mutation load, mismatch repair deficiency, and PD-L1 expression in a large patient cohort of gastrointestinal cancers. Mol. Cancer Res. 16, 805–812 (2018).
Article CAS PubMed PubMed Central Google Scholar
Prete, A. A. et al. Extensive molecular profiling of squamous cell anal carcinoma in a phase 2 trial population: translational analyses of the “CARACAS” study. Eur. J. Cancer 182, 87–97 (2023).
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