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ABSTRACT _CEBPα_ mutations have been described in adult acute myeloid leukemia (AML) and conferred a favorable prognosis. However, _CEBPα_ mutation has not been reported in children. We
investigated 117 children with _de novo_ AML using DNA PCR assay followed by sequencing for each PCR product. _CEBPα_ mutations were detected in seven patients, four had FAB M2, two M1 and
one M4. _CEBPα_ mutations only occurred in patients with intermediate cytogenetics and not in 56 children with _AML1-ETO_, _CBFβ-MYH11_, _PML-RARα_ or _MLL_ rearrangements. Five patients had
mutations occurred in both N-terminal part and basic-leucine zipper (bZIP) domain, one had an N-terminal frameshift mutation and the remaining one had an inframe insertion in the bZIP
domain. Cloning analysis on five samples carrying more than one mutations demonstrated one homozygous combined mutations and four heterozygous biallelic mutations. Four of seven _CEBPα_
mutation(+) patients had cooperating mutations with _FLT3_-ITD or N-_ras_ mutations compared to 27 in 109 _CEBPα_ mutation(−) patients. Our results showed that _CEBPα_ mutations occurred in
6% of childhood AML and most exhibited combined mutations in both N-terminal part and bZIP domain. Access through your institution Buy or subscribe This is a preview of subscription content,
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CONTEXT-DEPENDENT GENOMIC AND PROGNOSTIC CHARACTERIZATION IN 176 INFORMATIVE CASES Article Open access 01 March 2025 _U2AF1_ PATHOGENIC VARIANTS IN MYELOID NEOPLASMS AND PRECURSOR STATES:
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Scholar Download references ACKNOWLEDGEMENTS This work is supported by Grant NSC 92-2314-B-182-026 from the National Science Council, Taiwan, and Grant MMH-E-93009 from Mackay Memorial
Hospital, Taipei, Taiwan. D-C Liang, I-J Hung, C-P Yang, H-C Liu, T-H Jaing and L-Y Wang are members of the Taiwan Pediatoric Oncology Group, Childhood Cancer Foundation, ROC (CCF) and thank
CCF for the continuous support to nationwide clinical trials. We thank Ms Meng-Chu Chou and Ms Yu-Shu Shih for their excellent technical assistance. AUTHOR INFORMATION AUTHORS AND
AFFILIATIONS * Division of Pediatric Hematology-Oncology, Mackay Memorial Hospital, Taipei, Taiwan D -C Liang, H -C Liu & L -Y Wang * Division of Hematology-Oncology, Chang Gung Memorial
Hospital, Taipei, Taiwan L -Y Shih & C -F Huang * School of Medicine, Chang Gung University, Taoyuan, Taiwan L -Y Shih, I -J Hung & C -P Yang * Division of Pediatric
Hematology-Oncology, Chang Gung Children's Hospital, Linkou, Taiwan I -J Hung, C -P Yang & T -H Jaing * Biostatistics Department, Childhood Cancer Foundation, Taipei, Taiwan W -H
Chang Authors * D -C Liang View author publications You can also search for this author inPubMed Google Scholar * L -Y Shih View author publications You can also search for this author
inPubMed Google Scholar * C -F Huang View author publications You can also search for this author inPubMed Google Scholar * I -J Hung View author publications You can also search for this
author inPubMed Google Scholar * C -P Yang View author publications You can also search for this author inPubMed Google Scholar * H -C Liu View author publications You can also search for
this author inPubMed Google Scholar * T -H Jaing View author publications You can also search for this author inPubMed Google Scholar * L -Y Wang View author publications You can also search
for this author inPubMed Google Scholar * W -H Chang View author publications You can also search for this author inPubMed Google Scholar CORRESPONDING AUTHOR Correspondence to L -Y Shih.
RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Liang, DC., Shih, LY., Huang, CF. _et al._ _CEBPα_ mutations in childhood acute myeloid leukemia.
_Leukemia_ 19, 410–414 (2005). https://doi.org/10.1038/sj.leu.2403608 Download citation * Received: 31 August 2004 * Accepted: 26 October 2004 * Published: 23 December 2004 * Issue Date: 01
March 2005 * DOI: https://doi.org/10.1038/sj.leu.2403608 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a shareable
link is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative KEYWORDS * childhood acute myeloid leukemia * _CEBPα_
mutations * cooperating mutations * _FLT3_ mutations * N-_ras_ mutations