Fanconi anemia: A pathway of hematopoiesis and cancer predisposition

Abstract

Fanconi anemia (FA) is a rare genetic disease that is a complex, multi-system, and chronic disorder requiring precise diagnosis, careful and judicious treatment delivered as multidisciplinary care across several medical and surgical specialties, and lifetime, close monitoring. While bone marrow failure is ultimately treated with bone marrow transplant, continued monitoring for squamous cell carcinoma and other cancer types is crucial due to the manyfold increased incidence of solid tumors in these patients. An emerging picture of dysfunctional DNA repair appears to account for the pathophysiology of FA, although large gaps in the complete elucidation of the mechanism remain. This chapter reviews the current clinical aspects of FA including presentation, diagnosis, and management, followed by a review of the molecular aspects of FA as they are currently understood.