Abstract
Fanconi anemia is a rare genome instability disorder with extreme susceptibility to squamous cell carcinoma of the head and neck and anogenital tract. In patients with this inherited disorder, the risk of head and neck cancer is 800-fold higher than in the general population, a finding which might suggest a viral etiology. Here, we analyzed the possible contribution of human polyomaviruses to FA-associated head and neck squamous cell carcinoma (HNSCC) by a pan-polyomavirus immunohistochemistry test which detects the T antigens of all known human polyomaviruses. We observed weak reactivity in 17% of the HNSCC samples suggesting that based on classical criteria, human polyomaviruses are not causally related to squamous cell carcinomas analyzed in this study.
Highlights
Fanconi anemia (FA) is a rare DNA repair deficiency syndrome where inactivating germline mutations in FA genes confer susceptibility to bone marrow failure, leukemia and solid tumors, squamous cell carcinoma (SCC) [1,2,3,4,5,6]. 22 genes encoding FA complementation group (FANC) proteins that contribute to DNA repair have been identified
Merkel cell polyomavirus (MCV) positive and negative Merkel cell carcinoma (MCC) tissues along with a cell-pellet microarray comprised of HEK293 cells expressing T antigens of all thirteen known Human polyomaviruses (HPyV) were used as controls
In FAHNSCC-5, FAHNSCC-8, and FAHNSCC-25 we observed a few cells with strong nuclear staining (1–5 cells/ section) suggestive of passenger infection
Summary
Fanconi anemia (FA) is a rare DNA repair deficiency syndrome where inactivating germline mutations in FA genes confer susceptibility to bone marrow failure, leukemia and solid tumors, squamous cell carcinoma (SCC) [1,2,3,4,5,6]. 22 genes encoding FA complementation group (FANC) proteins that contribute to DNA repair have been identified. Fanconi anemia (FA) is a rare DNA repair deficiency syndrome where inactivating germline mutations in FA genes confer susceptibility to bone marrow failure, leukemia and solid tumors, squamous cell carcinoma (SCC) [1,2,3,4,5,6]. High-risk human papillomavirus (HPV), HPV16, is an established cause of sporadic anogenital and oropharyngeal SCC in healthy and immunosuppressed individuals [11]. Several groups have detected the presence of HPV in SCC [13,14,15], as well as seropositivity and increased prevalence of oral HPV in FA patients [16], a causal association for the high-risk HPV types 16/18 in FA HNSCC remains controversial [17,18,19,20]
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