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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
June 2010

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.

Duke Scholars

Published In

American Journal of Hematology

DOI

EISSN

1096-8652

ISSN

0361-8609

Publication Date

June 2010

Volume

85

Issue

6

Start / End Page

426 / 430

Publisher

Wiley

Related Subject Headings

  • Immunology
  • 1102 Cardiorespiratory Medicine and Haematology
 

Citation

APA
Chicago
ICMJE
MLA
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Lu, Y., Chen, W., Stein, A., Weiss, L. M., & Huang, Q. (2010). C/EBPA gene mutation and C/EBPA promoter hypermethylation in acute myeloid leukemia with normal cytogenetics. American Journal of Hematology, 85(6), 426–430. https://doi.org/10.1002/ajh.21706
Lu, Ying, Wengang Chen, Wei Chen, Anthony Stein, Lawrence M. Weiss, and Qin Huang. “C/EBPA gene mutation and C/EBPA promoter hypermethylation in acute myeloid leukemia with normal cytogenetics.” American Journal of Hematology 85, no. 6 (June 2010): 426–30. https://doi.org/10.1002/ajh.21706.
Lu Y, Chen W, Stein A, Weiss LM, Huang Q. C/EBPA gene mutation and C/EBPA promoter hypermethylation in acute myeloid leukemia with normal cytogenetics. American Journal of Hematology. 2010 Jun;85(6):426–30.
Lu, Ying, et al. “C/EBPA gene mutation and C/EBPA promoter hypermethylation in acute myeloid leukemia with normal cytogenetics.” American Journal of Hematology, vol. 85, no. 6, Wiley, June 2010, pp. 426–30. Crossref, doi:10.1002/ajh.21706.
Lu Y, Chen W, Stein A, Weiss LM, Huang Q. C/EBPA gene mutation and C/EBPA promoter hypermethylation in acute myeloid leukemia with normal cytogenetics. American Journal of Hematology. Wiley; 2010 Jun;85(6):426–430.
Journal cover image

Published In

American Journal of Hematology

DOI

EISSN

1096-8652

ISSN

0361-8609

Publication Date

June 2010

Volume

85

Issue

6

Start / End Page

426 / 430

Publisher

Wiley

Related Subject Headings

  • Immunology
  • 1102 Cardiorespiratory Medicine and Haematology