NEW YORK (Reuters Health) - A mutation in CEBPA, the gene for a granulocytic differentiation factor, appears to be responsible for the acute myeloid leukemia (AML) that developed in one family, according to a report in the December 2nd issue of The New England Journal of Medicine.
Although CEBPA mutations do occur with sporadic AML, they have not been described with familial forms of the disease.
Dr. Matthew L. Smith, from St. Bartholomew’s Hospital in London, and colleagues describe three family members with AML who had the identical deletion mutation in CEBPA. Moreover, the mutation was not identified in any family members without AML.
The latent period before the onset of overt leukemia ranged from 10 to 30 years, the researchers note. Further testing revealed a second CEBPA mutation in one patient, but this mutation was only detected at diagnosis, not at follow-up.
After being treated with chemotherapy, all of the patients are doing well with no bone marrow abnormalities, the authors note.
“We speculate that leukemias involving CEBPA mutations have a good prognosis because they are relatively “simple” diseases affecting patients with few genetic abnormalities,” Dr. Stefan Frohling and Dr. Hartmut Dohner, from University Hospital Ulm in Germany, note in a related editorial.
Source: N Engl J Med 2004;351:2370-2372,2403-2407. [ Google search on this article ]
MeSH Headings:Leukemia, Myelocytic, Acute: Leukemia, Nonlymphocytic, AcuteCopyright © 2002 Reuters Limited. All rights reserved. Republication or redistribution of Reuters content, including by framing or similar means, is expressly prohibited without the prior written consent of Reuters. Reuters shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon. Reuters and the Reuters sphere logo are registered trademarks and trademarks of the Reuters group of companies around the world.
