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; Sun Hee Kim

doi:10.18632/oncotarget.10240

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
, Sun Hee Kim

Department of Internal Medicine

National Cancer Center Korea
Yonsei University
Sungkyunkwan University
Green Cross Genome Corporation

Research output: Contribution to journal › Article › peer-review

28 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	54825-54837
Number of pages	13
Journal	Oncotarget
Volume	7
Issue number	34
DOIs	https://doi.org/10.18632/oncotarget.10240
State	Published - 2016

Bibliographical note

Funding Information:
We gratefully acknowledge contributions of participants enrolled in this study. This research was supported by Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (NRF-2012R1A1A2043879).

Keywords

Acute myeloid leukemia
DNMT3A
Mutation
Next generation sequencing

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10.18632/oncotarget.10240

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title = "Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations",

abstract = "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.",

keywords = "Acute myeloid leukemia, DNMT3A, Mutation, Next generation sequencing",

author = "Shin, \{Sang Yong\} and Lee, \{Seung Tae\} and Kim, \{Hee Jin\} and Cho, \{Eun Hae\} and Kim, \{Jong Won\} and Silvia Park and Jung, \{Chul Won\} and Kim, \{Sun Hee\}",

note = "Funding Information: We gratefully acknowledge contributions of participants enrolled in this study. This research was supported by Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (NRF-2012R1A1A2043879).",

year = "2016",

doi = "10.18632/oncotarget.10240",

language = "English",

volume = "7",

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TY - JOUR

T1 - Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations

AU - Shin, Sang Yong

AU - Lee, Seung Tae

AU - Kim, Hee Jin

AU - Cho, Eun Hae

AU - Kim, Jong Won

AU - Park, Silvia

AU - Jung, Chul Won

AU - Kim, Sun Hee

N1 - Funding Information: We gratefully acknowledge contributions of participants enrolled in this study. This research was supported by Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (NRF-2012R1A1A2043879).

PY - 2016

Y1 - 2016

N2 - 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.

AB - 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.

KW - Acute myeloid leukemia

KW - DNMT3A

KW - Mutation

KW - Next generation sequencing

UR - https://www.scopus.com/pages/publications/84983483047

U2 - 10.18632/oncotarget.10240

DO - 10.18632/oncotarget.10240

M3 - Article

C2 - 27359055

AN - SCOPUS:84983483047

SN - 1949-2553

VL - 7

SP - 54825

EP - 54837

JO - Oncotarget

JF - Oncotarget

IS - 34

ER -

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

Abstract

Bibliographical note

Keywords

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