Open AccessMutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations
Author(s) -
Sohee Shin,
Seung Tae Lee,
HeeJin Kim,
Eun Hae Cho,
Jong-Won Kim,
Silvia Park,
Chul Won Jung,
SunHee Kim
Publication year - 2016
Publication title -
oncotarget
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.373
H-Index - 127
ISSN - 1949-2553
DOI - 10.18632/oncotarget.10240
Subject(s) - cebpa , medicine , neuroblastoma ras viral oncogene homolog , ptpn11 , oncology , npm1 , kras , myeloid leukemia , sanger sequencing , hematology , cancer , mutation , cancer research , genetics , gene , biology , karyotype , colorectal cancer , chromosome
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.