{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T23:05:20Z","timestamp":1792796720650,"version":"4.5.0"},"reference-count":88,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T00:00:00Z","timestamp":1758153600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Heart, Lung, and Blood Institute","award":["R00 HL177829-M.J."],"award-info":[{"award-number":["R00 HL177829-M.J."]}]},{"name":"National Heart, Lung, and Blood Institute","award":["R21 AA030864-M.J."],"award-info":[{"award-number":["R21 AA030864-M.J."]}]},{"name":"National Institute on Alcohol Abuse and Alcoholism","award":["R00 HL177829-M.J."],"award-info":[{"award-number":["R00 HL177829-M.J."]}]},{"name":"National Institute on Alcohol Abuse and Alcoholism","award":["R21 AA030864-M.J."],"award-info":[{"award-number":["R21 AA030864-M.J."]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Fanconi anemia (FA) is a genetic disorder characterized by congenital anomalies, bone marrow failure, and cancer predisposition. Among other solid cancers, head and neck squamous cell carcinoma (FA HNSCC) is the most common cancer type in individuals with FA. The FA pathway is required for the complete repair of DNA interstrand crosslinks (ICLs), and unresolved ICLs result in cell cycle arrest, apoptosis, or complex chromosomal rearrangements due to chromosome breaks, ultimately leading to tumorigenesis. FA HNSCCs present earlier (median age of onset in the 30s) and exhibit a more aggressive course with frequent recurrence and second primaries, and entail a poorer survival rate compared to sporadic HNSCC. FA HNSCCs are mostly human papillomavirus (HPV)-negative and frequently carry somatic copy number variations (CNVs), which amplify oncogenes implicated in sporadic HNSCC, but single-nucleotide variants or small insertions and deletions are less frequent than in HPV-negative sporadic HNSCC. A subset of sporadic HNSCC carries pathogenic mutations or promoter methylation in FA genes, which also harbor characteristic somatic CNVs, suggesting shared molecular underpinnings with FA HNSCC. Heightened inflammation from genomic instability and transcriptional activation of retrotransposons contribute to tumorigenesis and increased invasiveness by the epithelial-to-mesenchymal transition. Due to heightened sensitivity to DNA crosslinking agents in patients with FA, platinum-based chemotherapy is generally avoided, which presents a significant hurdle for treatment and thereby leaves limited therapeutic options. Surgical management is the mainstay of therapy if possible, and targeted therapy has been increasingly studied in HNSCC in FA.<\/jats:p>","DOI":"10.3390\/cancers17183046","type":"journal-article","created":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T09:32:32Z","timestamp":1758187952000},"page":"3046","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Head and Neck Cancer in Fanconi Anemia: Clinical Challenges and Molecular Insights into a DNA Repair Disorder"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-6440-4271","authenticated-orcid":false,"given":"Juhye","family":"Choi","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Semmelweis University, 1085 Budapest, Hungary"},{"name":"Division of Hematology, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1364-1814","authenticated-orcid":false,"given":"Moonjung","family":"Jung","sequence":"additional","affiliation":[{"name":"Division of Hematology, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA"},{"name":"Department of Oncology, Sidney Kimmel Comprehensive Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA"},{"name":"Department of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,18]]},"reference":[{"key":"ref_1","unstructured":"Bhandari, J., Thada, P.K., Killeen, R.B., and Puckett, Y. 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