Therapeutic research in the crystal chromosome disease Fanconi anemia

Publication date: Available online 7 May 2018 Source:Mutation Research/Genetic Toxicology and Environmental Mutagenesis Author(s): Jordi Minguillón, Jordi Surrallés 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 potent...
Source: Mutation Research Genetic Toxicology and Environmental Mutagenesis - Category: Genetics & Stem Cells Source Type: research