Prevalence and Clinical Significance of Visible Oral Lesions in Patients with Fanconi Anemia at Risk for Head and Neck Cancer

Fanconi anemia is a genetic bone marrow failure syndrome, variably associated with congenital anomalies and a sharply increased risk for epithelial malignancies. During the past 20 years, hematopoietic stem cell transplantation (HSCT) has dramatically improved survival. However, compared to the general population, FA patients are at greatly increased risk, and at a much younger age, for squamous cell carcinomas (SCC) of the oral cavity, esophagus and the anogenital region. The relative risk and age of onset appears to negatively correlate with HSCT in FA patients. Due to the underlying defect in DNA crosslink repair, standard chemotherapy protocols cannot be used in FA patients with SCCs. Therefore, early detection of precancerous lesions is the most promising option for long-term cure and survival. Based on oral screenings of 300 patients, we report here on the prevalence of visible oral lesions as potential precursors of oral SCCs in FA patients.