C/EBPA gene mutation and C/EBPA promoter hypermethylation in acute myeloid leukemia with normal cytogenetics
Publication
, Journal Article
Lu, Y; Chen, W; Chen, W; Stein, A; Weiss, LM; Huang, Q
Published in: American Journal of Hematology
In the current study, we investigated gene mutations and promoter hypermethylation in a series of 53 patients with CN‐AML. In addition, we also analyzed two other frequent mutations ( and ) in these patients and correlated them with gene alterations. 13/53 patients were , 11/53 patients were , 9/53 patients were , and 20/53 patients were . Four of 53 cases displayed mutations, whereas 49 cases had only wild‐type alleles. Of the four positive cases, three patients had N‐terminal mutations only, whereas one patient had mutations in both the N‐ and C‐terminal region. Two of the four positive cases also harbored both and mutation simultaneously, whereas the other two patients had neither nor mutations. Furthermore, 7/53 cases displayed promoter hypermethylation. Interestingly, they were all in CN‐AML cases without or mutations. None of the seven patients with promoter hypermethylation showed mutation. In conclusion, mutation and promoter hypermethylation can be detected at a relatively low frequency in de novo CN‐AML patients, suggesting they may contribute to leukemogenesis. mutation appears to be seen in “high‐risk” AML (; or ), while hypermethylation appears to be more common in AML with ‐ /‐ and is not associated with mutation. Am. J. Hematol. 2010. © 2010 Wiley‐Liss, Inc.