RESUMEN
BACKGROUND: Fanconi anemia (FA) is a rare genetic disease usually characterized by bone marrow failure and congenital malformations. The risk of development of malignancies in the oral cavity of FA patients, such as squamous cell carcinoma (SCC), increases significantly after a hematopoietic stem cells transplant (HSCT), and may also be linked with the presence of human papillomavirus (HPV) infections in the oral cavity. We investigated the prevalence and the HPV genotypes in oral mucosa of Brazilian FA patients. METHODS AND RESULTS: Oral swabs of 49 FA patients were collected. The median age of patients was 20 years (range 5-44) and 57% were over 18 years. Oral lesions were present in 20% of all patients, being 90% leukoplakia. HPV DNA was detected in 28% (14/49) of patients, and one of them also reported genital HPV lesions. Sixty-seven percent of all patients had undergone HSCT, including 12 patients (86%) of those with HPV results. Multiple HPV types were detected in 78% and 71% of HPV samples by Sanger sequencing and reverse hybridization methods, respectively. The most prevalent HPV types detected were 6, 11, 18, and 68. CONCLUSIONS: HPV prevalence in the oral mucosa of the assessed FA patients was higher than reported in the general population. Additional studies with collection of sequential samples are needed to know the natural history of the presence of multiple HPV types in these individuals and its association with the development of tumors, to evaluate the implementation of preventive measures, such as vaccination, and to guide early treatment.