High frequency of multiple HPV types detection in Fanconi anemia patients oral swabs

Abstract

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.

The onset and progression of oral potentially malignant disorders in Fanconi anemia patients: Highlighting early detection of oral cancer

“… Portugal et al. 2019 12 Brazil 49 33 (67.3%) 16.3%/30.6% 20 (5–44) Cross-section NA 10 (20.4%) NA Swab Multiple HPV types were detected in 78% and 71% of HPV samples by Sanger sequencing and reverse hybridization methods, respectively. Smetsers et al.…”

“…As presented in Table 1 , there were 11 eligible papers containing 1 retrospective study, 2 case reports, 4 cross-section studies, and 4 follow-up studies involved in OPMD onset in FA patients. 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 A total of 1332 patients with FA from 7 countries (France, Brazil, Italy, United States, Netherlands, Germany, and Spain) are identified in literature. Among 1332 FA patients, 186 (14.0%) were diagnosed with OPMD.…”

“… 5 Apart from one study including 16 FA patients with oral leukoplakia from Brazil, we herein add 10 studies including 186 FA patients diagnosed with oral potentially malignant visible lesions. 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 We pool the incidence of OPMD onset in FA patients being 14.0%, which is obviously higher than overall prevalence (4.47%) of OPMD worldwide reported by systematic review and meta-analysis. 17 Further, we synthesize the rate of malignant transformation in FA patients with OPMD being 41.1%, which is also dramatically higher than overall rate (7.9%) of OPMD malignant transformation reported by systematic review and meta-analysis ( Table 1 ).…”

Two enemies, one fight: An update of oral cancer in patients with Fanconi anemia

“…However, the contribution of HPV to oral carcinogenesis in the general population, as well as in patients with FA, is still controversial. The prevalence of HPV in the oral cavity of patients with FA varies from 7.5% to 28% . Whereas 1 study showed that the most frequent HPV types are HPV6, HPV11, HPV18, and HPV68, other studies reported that HPV6 and HPV16 were the most frequent …”

“…The prevalence of HPV in the oral cavity of patients with FA varies from 7.5% to 28%. [87][88][89][90] Whereas 1 study showed that the most frequent HPV types are HPV6, HPV11, HPV18, and HPV68, 90 other studies reported that HPV6 and HPV16 were the most frequent. 87,88 The HPV genome expresses several proteins, but E6 and E7 are the 2 predominant viral oncogenes.…”