A novel mutation of SETBP1 in atypical chronic myeloid leukemia transformed from acute myelomonocytic leukemia

WangQiang Hu; XiaoXia Wang; RongRong Yang; YaoSheng Xie; Zhuo Zhang; Hong Lu; LianFeng Wu; MeiMei Lai; Kang Yu

doi:10.1002/ccr3.243

A novel mutation of SETBP1 in atypical chronic myeloid leukemia transformed from acute myelomonocytic leukemia

Clin Case Rep. 2015 Jun;3(6):448-52. doi: 10.1002/ccr3.243. Epub 2015 Apr 22.

Authors

WangQiang Hu¹, XiaoXia Wang¹, RongRong Yang¹, YaoSheng Xie¹, Zhuo Zhang¹, Hong Lu¹, LianFeng Wu¹, MeiMei Lai¹, Kang Yu²

Affiliations

¹ Department of Laboratory Medicine, The First Affiliated Hospital of Wenzhou Medical University Wenzhou, Zhejiang, China.
² Department of Hematology, The First Affiliated Hospital of Wenzhou Medical University Wenzhou, Zhejiang, China.

Abstract

To investigate an oncogenic mutation of SETBP1 in the evolution from acute myelomonocytic leukemia (M4) to secondary aCML. Clinical data and molecular studies were analyzed of paired aCML and 'normal'DNA from a case with M4. We identified a mutation in SETBP1 (encoding a p.Asp868Ala alteration). The analysis of paired sample indicated that SETBP1 mutation was acquired during leukemic evolution.

Keywords: Acute myelomonocytic leukemia; SETBP1; atypical chronic myeloid leukemia; mutation.

Publication types

Case Reports