Identification of somatic mutations using whole-exome sequencing in Korean patients with acute myeloid leukemia

Seong Gu Heo, Youngil Koh, Jong Kwang Kim, Jongsun Jung, Hyung Lae Kim, Sung Soo Yoon, Ji Wan Park

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4 Scopus citations


Background: Acute myeloid leukemia (AML) is a biologically and clinically heterogeneous cancer of the bone marrow that is characterized by the rapid growth of abnormal myeloid cells. Methods: We performed a mutational analysis to identify AML somatic mutations using the whole-exome sequencing data of 36 tumor-normal sample pairs from Korean patients with de novo AML. We explored the functional impact of the genes identified in the mutational analyses through an integrated Gene Ontology (GO) and pathway analysis. Results: A total of 11 genes, including NEFH (p=6.27×10-13 and q=1.18×10-8) and TMPRSS13 (p=1.40×10-10 and q=1.32×10-6), also demonstrated q values less than 0.1 in 36 Korean AML patients. Five out of the 11 novel genes have previously been reported to be associated with other cancers. Two gene mutations, CEBPA (p=5.22×10-5) and ATXN3 (p=9.75×10-4), showed statistical significance exclusively in the M2 and M3 subtypes of the French-American-British classifications, respectively. A total of 501 genes harbored 478 missense, 22 nonsense, 93 frameshift indels, and/or three stop codon deletions and these gene mutations significantly enriched GO terms for signal transduction (GO:0007165, p=1.77×10-3), plasma membrane (GO:0005886, p=3.07×10-4), and scaffold protein binding (GO:0097110, p=8.65×10-4). The mitogen-activated protein kinase (hsa04010, 7.67×10-4) was the most enriched Kyoto Encyclopedia of Genes and Genomes pathway. Conclusions: Morphological AML subtypes may in part reflect subtype specific patterns of genomic alterations. Following validation, future studies to evaluate the usefulness of these genes in genetic testing for the early diagnosis and prognostic prediction of AML patients would be worthwhile.

Original languageEnglish
Article number23
JournalBMC Medical Genetics
Issue number1
StatePublished - 1 Mar 2017

Bibliographical note

Funding Information:
This research was supported by grant of the Korea Health Industry Development Institute (KHIDI) of the Ministry of Health & Welfare (HI14C0072) and the National Research Foundation (NRF) of the Ministry of Education (2014R1A1A3053168), Republic of Korea.

Publisher Copyright:
© 2017 The Author(s).


  • Acute myeloid leukemia
  • Gene ontology
  • Pathway analysis
  • Somatic mutation
  • Subtype-specific mutation
  • Whole-exome sequencing


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