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Pathogenesis and Treatments of Head and Neck Cancer: 2nd Edition
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Pathogenesis and Treatments of Head and Neck Cancer: 2nd Edition

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Oncology".

Deadline for manuscript submissions: 30 November 2025 | Viewed by 504

Special Issue Editor

Dr. Marko Tarle

E-Mail Website
Guest Editor
1. Department of Maxillofacial Surgery, Dubrava University Hospital, 10 000 Zagreb, Croatia
2. School of Dental Medicine, University of Zagreb, 10 000 Zagreb, Croatia
Interests: oral cancer; head and neck cancer; cancer therapy; molecular biomarkers; maxillofacial surgery
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Special Issue Information

Dear Colleagues,

Head and neck cancer (HNSCC) is the sixth most common cancer worldwide and is a major public health problem due to its high mortality rate, despite the strong development of diagnostic and therapeutic methods in recent decades. The main risk factors are the consumption of alcohol and tobacco products and human papillomavirus (HPV) infection, which is responsible for a significant increase in incidence in the younger population. Patients with the same clinical and patho-histologic features often have a different disease prognosis. This suggests that the biological behavior of HNSCC and interpersonal differences require further investigation. New biomarkers that can help us diagnose tumors early, more accurately determine the risk of malignant transformation of precancerous lesions, identify more aggressive tumors, and detect disease recurrence and distant metastases could greatly improve the survival of patients with HNSCC.

In this Special Issue, we encourage the publication of scientific papers that provide new insight into genetic, molecular, and phenotypic changes in the pathogenesis of HNSCC, the tumor microenvironment, circulating tumor cells, therapeutic strategies that target important changes in tumor cells and their environment, and the use of artificial intelligence (AI) in the early diagnosis, treatment, and follow-up of patients with HNSCC.

Dr. Marko Tarle
Guest Editor

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Keywords

  • HNSCC
  • premalignant changes
  • tumor microenvironment
  • molecular biomarkers
  • targeted therapy
  • oral tumorigenesis
  • molecular pathogenesis
  • tumor biology
  • tumor immunology

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Published Papers (1 paper)

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Review

23 pages, 1279 KB  
Review
Head and Neck Malignancies in Autoimmune Polyendocrine Syndrome Type 1 (APS-1/APECED): A Scoping Review of Molecular Pathogenesis, Clinical Features, and Outcomes
by Marko Tarle, Marina Raguž and Ivica Lukšić
Int. J. Mol. Sci. 2025, 26(18), 8969; https://doi.org/10.3390/ijms26188969 - 15 Sep 2025
Viewed by 323
Abstract
Autoimmune polyendocrine syndrome type 1 (APS-1, APECED) is a rare monogenic disorder caused by biallelic AIRE mutations and is classically associated with chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency. Apart from the autoimmune manifestations, APS-1 is associated with an increased risk of [...] Read more.
Autoimmune polyendocrine syndrome type 1 (APS-1, APECED) is a rare monogenic disorder caused by biallelic AIRE mutations and is classically associated with chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency. Apart from the autoimmune manifestations, APS-1 is associated with an increased risk of squamous cell carcinoma (SCC), particularly in the oral cavity and esophagus. However, the evidence is patchy and has not yet been systematically reviewed. We conducted a scoping review according to the PRISMA-ScR guidelines. Pub-Med, Scopus, and Web of Science were searched using the terms APS-1/APECED and malignancy until July 2025. Eligible studies reported on APS-1 patients with histologically confirmed head, neck or esophageal cancer. Clinical, pathological, genetic and outcome data were summarized narratively. Nine publications described 19 APS-1 patients with 26 tumors. The mean age at cancer diagnosis was 35 years, with a latency period of ~24 years from the onset of APS-1. Tumors occurred most frequently in the oral cavity (65%), followed by the lip (19%) and esophagus (15%). In 96% of cases, the tumors were SCC. The grade of the tumor varied, and almost half of the cases were diagnosed at an advanced stage. As far as reported, the usual risk factors were not particularly pronounced; many patients did not smoke or drink alcohol. The main treatment consisted of surgery, often in combination with radiotherapy or chemoradiotherapy, alongside long-term antifungal therapy. Despite the multimodal treatment, outcomes were poor: the overall survival rate was ~50%, with recurrence occurring in 38% of cases and a second primary tumor in 26%. A further 14 cases were reported from another Italian cohort, which together with the national cohort dana suggest a risk of approximately ~10% with APS-1; however, the true lifetime risk remains uncertain. Head and neck malignancies in APS-1 occur early, often without classic risk factors, and have a high recurrence and mortality rate. Lifelong surveillance, antifungal stewardship and increased clinical awareness, ideally as part of multidisciplinary treatment pathways, are critical to improving outcomes in this rare but high-risk population. Full article
(This article belongs to the Special Issue Pathogenesis and Treatments of Head and Neck Cancer: 2nd Edition)
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