Research Papers:

Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations

Sang-Yong Shin, Seung-Tae Lee, Hee-Jin Kim, Eun Hae Cho, Jong-Won Kim, Silvia Park, Chul Won Jung _ and Sun-Hee Kim

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Oncotarget. 2016; 7:54825-54837. https://doi.org/10.18632/oncotarget.10240

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Sang-Yong Shin1, Seung-Tae Lee2, Hee-Jin Kim3, Eun Hae Cho5, Jong-Won Kim3, Silvia Park4, Chul Won Jung4, Sun-Hee Kim3

1Department of Laboratory Medicine, Center for Diagnostic Oncology, Hospital and Research Institute, National Cancer Center, Goyang, Korea

2Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea

3Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

4Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

5Green Cross Genome, Yongin, Korea

Correspondence to:

Seung-Tae Lee, email: [email protected]

Sun-Hee Kim, email: [email protected]

Keywords: acute myeloid leukemia, mutation, next generation sequencing, DNMT3A

Received: October 19, 2015    Accepted: May 13, 2016    Published: June 23, 2016


We selected 19 significantly-mutated genes in AMLs, including FLT3, DNMT3A, NPM1, TET2, RUNX1, CEBPA, WT1, IDH1, IDH2, NRAS, ASXL1, SETD2, PTPN11, TP53, KIT, JAK2, KRAS, BRAF and CBL, and performed massively parallel sequencing for 114 patients with acute myeloid leukemias, mainly including those with normal karyotypes (CN-AML). More than 80% of patients had at least one mutation in the genes tested. DNMT3A mutation was significantly associated with adverse outcome in addition to conventional risk stratification such as the European LeukemiaNet (ELN) classification. We observed clinical usefulness of mutation testing on multiple target genes and the association with disease subgroups, clinical features and prognosis in AMLs.

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