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

作者：Shin Sang Yong; Lee Seung Tae; Kim Hee Jin; Cho Eun Hae; Kim Jong Won; Park Silvia; Jung Chul Won; Kim Sun Hee

来源：Oncotarget, 2016, 7(34): 54825-54837.

DOI：10.18632/oncotarget.10240

• acute myeloid leukemia
• mutation
• next generation sequencing
• DNMT3A

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.

• 出版日期2016-8-23