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Bailey, D. Congenic strain analysis. J Hered. PubMed Google Scholar. Moutier, R. L, Carlier, M. Guillot P. In Molecular genetic Techniques for Behavioral Neuroscienc ,. Crusio and R Gerlai, eds.
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Goode, eds. Hauser P. Ind Health 85— Blanchard, D. Haug and R. Whalen, eds. Personalised recommendations. Cite chapter How to cite? ENW EndNote. Buy options. Jude Department of Pathology. AEL is a rare subtype of acute myeloid leukemia that is more common in adults than children. AEL is often unresponsive to conventional therapy and overall long-term survival is less than 10 percent. Redefining AEL Classifying AEL in the spectrum of myeloid leukemia has been a challenge since the leukemia was first described almost a century ago.
The diagnostic criteria have changed over the decades, most recently in , but the genomic basis of AEL remained uncertain. The analysis included the whole genome, whole exome or whole transcriptome sequencing data. The patients were from the U. They ranged from infants to adults age 60 and older. The subset accounted for 32 percent of the cases in this analysis and was associated with a dismal prognosis.
There were no long-term survivors. In contrast, about 12 percent of adult patients were in a subgroup defined by mutations in the NPM1 gene and had a good prognosis. More than 87 percent of patients were long-term survivors. These are the genomic alterations that defined the other AEL subgroups: NUP98 rearranged KMT2A mutated or rearranged DDX41 mutated Other lacking a recurring identifiable founding genetic alteration Precision medicine "Identifying the genomic basis of AEL also led to identification of novel treatment targets in signaling pathways and early evidence of effectiveness," said co-author Torsten Haferlach, M.
Kinases help regulate gene activity and are frequently mutated in cancer. AEL remained undetectable in the mice for at least three months following treatment. Note: material may have been edited for length and content. For further information, please contact the cited source. Genomic subtyping and therapeutic targeting of acute erythroleukemia. Nature Genetics. If the method is approved for clinical use, the researchers hope eventually to see it used as a diagnostic tool in primary healthcare.