Research Papers:

Mutational spectrum of acute myeloid leukemia patients with double CEBPA mutations based on next-generation sequencing and its prognostic significance

Long Su, YeHui Tan, Hai Lin, XiaoLiang Liu, Li Yu, YanPing Yang, ShanShan Liu, Ou Bai, Yan Yang, FengYan Jin, JingNan Sun, ChunShui Liu, QiuJu Liu, SuJun Gao _ and Wei Li

PDF  |  HTML  |  Supplementary Files  |  How to cite

Oncotarget. 2018; 9:24970-24979. https://doi.org/10.18632/oncotarget.23873

Metrics: PDF 2125 views  |   HTML 3917 views  |   ?  


Long Su1,*, YeHui Tan1,*, Hai Lin1, XiaoLiang Liu1, Li Yu2, YanPing Yang1, ShanShan Liu1, Ou Bai1, Yan Yang1, FengYan Jin1, JingNan Sun1, ChunShui Liu1, QiuJu Liu1, SuJun Gao1 and Wei Li1

1Department of Hematology, The First Hospital, Jilin University, Changchun, China

2Department of Hematology, Chinese PLA General Hospital, Peking, China

*These authors have contributed equally to this work

Correspondence to:

SuJun Gao, email: [email protected]

Keywords: acute myeloid leukemia; CEBPA mutations; next generation sequencing; prognoses; Chinese population

Received: March 16, 2017    Accepted: December 27, 2017    Epub: January 03, 2018    Published: May 18, 2018


The aim of this study was to profile the spectrum of genetic mutations in acute myeloid leukemia (AML) patients co-occurring with CEBPA double mutation (CEBPAdm). Between January 1, 2012, and June 30, 2017, 553 consecutive patients with de novo AML were screened for CEBPA mutations. Out of these, 81 patients classified as CEBPAdm were analyzed further by a sensitive next-generation sequencing assay for mutations in 112 candidate genes. Within the CEBPA gene itself, we found 164 mutations. The most common mutated sites were c.936_937insGAG (n = 11/164, 6.71%) and c.939_940insAAG (n = 11/164, 6.71%), followed by c.68dupC (n = 10/164, 6.10%). The most common co-occurring mutations were found in the CSF3R (n = 16/81, 19.75%), WT1 (n = 15/81, 18.52%), and GATA2 (n = 13/81, 16.05%) genes. Patients with CSF3R mutations had an inferior four-year relapse-free survival (RFS) than those with the wild-type gene (15.3% versus 46.8%, respectively; P = 0.021). Patients with WT1 mutations had an inferior five-year RFS compared with those without such mutations (0% versus 26.6%, respectively, P = 0.003). However, GATA2, CSF3R, WT1 mutations had no significant influence on the overall survival. There were some differences in the location of mutational hotspots within the CEBPA gene, as well as hotspots of other co-occurring genetic mutations, between AML patients from Chinese and Caucasian populations. Some co-occurring mutations may be potential candidates for refining the prognoses of AML patients with CEBPAdm in the Chinese population.

Creative Commons License All site content, except where otherwise noted, is licensed under a Creative Commons Attribution 4.0 License.
PII: 23873