核心结合因子急性髓系白血病中 c-KIT 突变的预后影响。
Prognostic impact of c-KIT mutations in core binding factor acute myeloid leukemia.
机构信息
Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Republic of Korea.
出版信息
Leuk Res. 2011 Oct;35(10):1376-83. doi: 10.1016/j.leukres.2011.06.003. Epub 2011 Jun 28.
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.
本研究旨在明确核心结合因子急性髓系白血病（CBF-AML）患者 c-KIT 突变的预后影响。共纳入 1999 年 1 月至 2010 年 5 月在我院确诊为 CBF-AML 的 116 例患者。我们采用熔解曲线分析和直接测序方法来确认 c-KIT 外显子 17（mutKIT17）和外显子 8（mutKIT8）的突变。在这 116 例患者中，36 例（31%）发现 mutKIT17，7 例（6%）发现 mutKIT8。在 t（8;21）患者中，与无突变患者相比，mutKIT17 患者的预后明显更差。这种差异仅局限于成人患者。在 inv（16）患者中，c-KIT 突变对预后没有影响。因此，建议对 t（8;21）的成人 CBF-AML 患者进行 mutKIT17 分析，作为预测预后的一种手段。
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