For the practicing otolaryngologist, the list of the causes of premalignant leukoplakia and head and neck squamous cell carcinoma (HNSCC) in patients aged 10 to 60 years without the usual risk factors needs to be expanded to include atypical as well as typical cases of Fanconi anemia (FA). In this issue, Alter et al1 describe HNSCC as a presenting manifestation in an adult patient with FA without anemia, due to somatic hematopoietic mosaicism. Also, the authors report the emerging epidemiological evidence regarding the extraordinarily high risk of HNSCC as the most common solid tumor in teens and adults with FA.2,3 The clinical importance of identifying these patients lies in the high risk for the development of multiple cancers and serious complications or death as a result of chemotherapy or radiotherapy due to the increased sensitivity of tissues to DNA damage. Furthermore, research into prophylactic strategies that can reduce chronic injury and exposure to carcinogens and human papillomavirus (HPV) has the potential to prevent or delay the development of these cancers until more specific therapies are available.
Van Waes C. Head and Neck Squamous Cell Carcinoma in Patients With Fanconi Anemia. Arch Otolaryngol Head Neck Surg. 2005;131(7):640-641. doi:10.1001/archotol.131.7.640