Prognostic impact of c-KIT mutations in core binding factor acute myeloid leukemia

This study sought to define the prognostic impact of c-KIT mutations in core binding factor acute myeloid leukemia (CBF AML) patients. A total of 116 patients diagnosed as CBF AML in Asan Medical Center from January 1999 to May 2010 were enrolled in this study. We applied melting curve analyses and direct sequencing methods to confirm c-KIT mutations in exon 17 (mutKIT17) and exon 8 (mutKIT8). Of the total 116 patients, mutKIT17 were found in 36 (31%) and mutKIT8 were found in 7 (6%). In patients with t(8;21), prognosis was significantly poorer in those with mutKIT17 compared to those without the mutation. This difference was limited to adults. In patients with inv(16), there was no prognostic impact of c-KIT mutations. Therefore, an analysis of mutKIT17 in adult CBF AML patients with t(8;21) is recommended as a means to predict prognosis.