Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: A search for human papillomavirus

Patients with Fanconi anemia (FA) and dyskeratosis congenita (DC) are at high risk of head and neck squamous cell carcinomas (HNSCC) and anogenital squamous cell carcinomas (SCC). In the general population, these sites (particularly oropharyngeal SCC) may be associated with infection with human papillomavirus (HPV). In FA and DC, however, the majority of HNSCC occur in the oral cavity. We investigated the HPV status of HNSCC and vulvar SCC from nine patients with FA and four with DC using a very sensitive PCR assay, and found HPV16 DNA in only a single vulvar tumor from one patient with FA, and in none of the HNSCC. These results suggest that HPV may not be the cause of SCC in patients with FA or DC, and that vaccination may not reduce the incidence of HNSCC in these patients. What's new? The incidence of squamous cell carcinoma (SCC) of the oral cavity and gynecologic tract in patients with Fanconi anemia suggests a link to human papillomavirus (HPV) infection. However, the possibility of an association has not been studied extensively, and studies that have been conducted have produced conflicting results. This analysis of tumors from patients with Fanconi anemia or dyskeratosis congenita yielded no evidence for HPV causality, indicating that HPV vaccination may not reduce the incidence of SCC in these patients. The findings warrant etiological investigation into non-HPV mechanisms of SCC in these populations.