Certain Mutations in Stem Cell Clones Associated with Poorer Outcomes in Aplastic Anemia

Scientists have identified a group of genetic mutations in patients with aplastic anemia, which will likely help doctors optimize treatment for this rare and deadly blood condition. The study, appearing on July 2, 2015 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. The article is titled "Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia." 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 (NIH), the Cleveland Clinic, Cleveland, Ohio, and Kanazawa University, Kanazawa, Japan. Dr. 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.Historically, severe aplastic anemia was almost always fatal due to infections and bleeding. Today, bone marrow transplantation can cure the condition, but it is not widely available and requires hard-to-find donors. Doctors generally treat aplastic anemia effectively using immunosuppressives--drugs that prevent the immune system from attacking bone marrow--allowing recovery of the patient's own marrow and long-term survival. However, about 15 percent of patients on immunosuppressives develop cancer of the blood--acute leukemia and myelodysplastic syndromes--months or years following treatment.
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