Gene mutations in Aplastic Anemia help optimize treament

Scientists have identified a group of genetic mutations in patients with aplastic anemia, which likely will help doctors optimize treatment for this rare and deadly blood condition. The study, appearing in the New England Journal of Medicine, could lead to tailor-made treatment plans for aplastic anemia patients as part of the emerging precision medicine movement. It is the largest study of its kind to examine gene mutations in aplastic anemia, the scientists note. The work involved researchers from the National Institutes of Health, the Cleveland Clinic, Cleveland, OH, and Kanazawa University, Kanazawa, Japan. Neal S. Young, chief of the hematology branch at the NIH's National Heart, Lung, and Blood Institute, was the study's co-leader. Almost 1,000 new cases of aplastic anemia occur each year in the United States alone. Although the disease can affect anyone, children and young adults make up the majority of cases. Stem cells in the bone marrow are normally responsible for producing blood. In aplastic anemia, the body's immune system appears to destroy these stem cells.
In the future, genomic screening at diagnosis should allow care providers to choose the best treatment option or monitor for the emergence of clone stem cells. The unfavorable genes, DNMT3A and ASXL1, are frequently mutated in myeloid leukemia and myelodysplastic syndromes, and they are also mutated in a substantial number of older individuals without a blood disease.