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CASE REPORT article

Front. Oncol.

Sec. Head and Neck Cancer

This article is part of the Research TopicGenetic and Genomic Alterations in CancerView all 5 articles

Genomic landscape of a long-term surviving patient with metastatic cancer of the larynx: a case report

Provisionally accepted
  • 1University Hospital Center Zagreb, Department of Oncology, School of Medicine, University of Zagreb, Zagreb, Croatia
  • 2Department of Pathology, School of Medicine, University of Zagreb, Zagreb, Croatia, Zagreb, Croatia
  • 3Institute for Anthropological Research, Zagreb, Croatia

The final, formatted version of the article will be published soon.

Head and neck squamous cell carcinoma (HNSCC) remains a major global health challenge, with limited long-term survival in the recurrent/metastatic (R/M) setting. Here, we present a rare case of a patient with metastatic laryngeal squamous cell carcinoma who survived eight years after diagnosis of metastatic disease, treated only with standard chemotherapy, metastas-ectomy, and palliative radiotherapy. To explore potential genomic underpinnings of this unusually favorable outcome, we performed next-generation sequencing of tumor (lymph node and lung metastases) and germline DNA. Mutations were analyzed across ten key oncogenic signalling pathways and compared with the COSMIC and OncoKB databases. Somatic muta-tions were found in all ten pathways, with multiple 3′ UTR variants in EIF4EBP1 and CTBP2, genes implicated in translational regulation and transcriptional repression, respectively. Germline analysis revealed 21 high-impact mutations, three of which were rare and potentially deleterious. Our findings suggest that subtle regulatory variants may contribute to favorable clinical outcomes in rare long-term survivors of R/M HNSCC. Further studies are needed to identify predictive biomarkers in this unique subgroup of patients.

Keywords: Laryngeal squamous cell carcinoma, recurrent-metastatic, Case-report, Long-term survival, Genomic profiling

Received: 24 Aug 2025; Accepted: 17 Nov 2025.

Copyright: © 2025 Bisof, Soce, Skrtic, Seiwerth and Pericic Salihovic. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Vesna Bisof, vesna.bisof@zg.t-com.hr

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