We describe a family in whom three members affected by acutemyeloid leukemia (AML) had an identical, 212delC mutation inCEBPA, the gene encoding the granulocytic differentiation factorC/EBP. Unaffected family members did not have this mutation.Latent periods of 10, 18, and 30 years elapsed before the onsetof overt leukemia in the three patients. One of them had a secondCEBPA mutation, but only at the time of diagnosis. All threepatients are currently well, with no abnormalities in the bonemarrow. CEBPA mutation is apparently the primary event in thedevelopment of AML in this family.
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From the Medical Oncology Unit, Cancer Research UK, Barts and the London School of Medicine and Dentistry (M.L.S., T.A.L., J.F.); and the Department of Haematology, St. Bartholomew's Hospital ( J.D.C.) — both in London.
Address reprint requests to Dr. Smith at Cancer Research UK, Medical Oncology Unit, St. Bartholomew's Hospital, West Smithfield, London EC1A 7BE, United Kingdom, or at matthew.smith{at}cancer.org.uk.
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. Unaffected family members did not have this mutation. Latent periods of 10, 18, and 30 years elapsed before the onset of overt leukemia in the three patients. One of them had a second CEBPA mutation, but only at the time of diagnosis. All three patients are currently well, with no abnormalities in the bone marrow. CEBPA mutation is apparently the primary event in the development of AML in this family. 
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