In the last decades there has been a great progress in understanding the pathological and genetic mechanisms involved in Fanconi anemia (FA), a rare disease characterized by chromosome fragility, congenital malformations, bone marrow failure (BMF) and high cancer predisposition. However, these advances have not gone in parallel with the development of medical treatments, with the exception of improved protocols of hematopoietic stem cell transplant (HSCT). BMF and hematological malignancies are the most important and life threatening conditions the patient suffer during the first and second decade of life, respectively, being HSCT the only curative treatment available. Solid tumors are the third hallmark of the disease, usually with poor prognosis as tumor resection is the only therapeutic option given that patients do not tolerate chemotherapy or radiation. With improved HSCT protocols, FA patient survival has increased, leading to a progressively increased number of solid malignancies in adult patients. Therapeutic research is currently focused in targeted therapies for solid tumors as well as in preventive options in the context of drug repurposing. This review summarizes current therapies and drugs used so far in clinical trials to treat Fanconi anemia, as well as the ones used in FA research with potential for future therapeutic opportunities including drugs that suppress chromosome fragility or are expected to delay the onset of BMF and cancer in Fanconi anemia.
Keywords: Bone marrow failure; Cancer predisposition; Chromosome fragility; DNA repair; Fanconi anemia; Rare disease.
Copyright © 2018. Published by Elsevier B.V.