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Fanconi anemia (FA) is an autosomal recessive DNA repair disorder with a very high risk of cancer.1,2 While most of the homozygotes are identified clinically because of characteristic birth defects and early-onset aplastic anemia,3 a subset of patients, often with milder physical and hematologic phenotypes, remain undiagnosed. They are at very high risk of neoplasms, including acute myeloid leukemias and solid tumors.4 All types of solid tumors (combined) develop at a rate that is 48 times greater than that experienced by the general population, and the cancer hazard rate is 2% per year by the age of 24 years, with a cumulative incidence in a competing risk model of 29% by the age of 45 years.5
Alter BP, Joenje H, Oostra AB, Pals G. Fanconi AnemiaAdult Head and Neck Cancer and Hematopoietic Mosaicism. Arch Otolaryngol Head Neck Surg. 2005;131(7):635-639. doi:10.1001/archotol.131.7.635