Geng Su-Xia, Du Xin, Weng Jian-Yu, Huang Xin, Lu Ze-Sheng, Zhong Li-Ye, Guo Rong, Wu Sui-Jing, Wu Ping
Department of Hematology, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Guangzhou 510080, Guangdong Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2013 Aug;21(4):839-42. doi: 10.7534/j.issn.1009-2137.2013.04.005.
This study was aimed to investigate the c-kit mutation in acute myeloid leukemia (AML) patients with AML1-ETO and analyze its relation with clinical and laboratorial features and prognosis. PCR and sequencing methods were used to detect the c-kit 17 exon mutations in 31 AML patients with AML1-ETO. The relation of the c-kit mutation with clinical features, results of laboratorial examination and prognosis of disease were analyzed. The results showed that the c-kit mutation was found in 14 out of 31 AML patients and the mutation frequency was 45.16%. Male patients had a higher incidence of c-kit mutation than that of female patients (P = 0.020). The proportion of patients with newly diagnosed white blood cell>10×10(9)/L and with extramedullary infiltration in mutated group were higher than those in unmutated group respectively. No significant difference was observed at the age (P = 0.437) and the rate of bone marrow blasts(P = 0.510) between the above mentioned two groups. The difference in complete remission rate (64.29% vs 80%, P = 0.344)and relapse rate (58.33% vs 21.43%, P = 0.054) between c-kit mutated and c-kit unmutated groups were not significant. While the c-kit mutated group had a significant higher death rate as compared with c-kit unmutated group (57.14% vs 20%, P = 0.039). It is concluded that the c-kit mutation is frequent in AML patients with AML1-ETO and the c-kit mutated patients have a poor prognosis. It is important to detect c-kit mutation in routine clinical practice for patient's risk stratification, evaluation of prognosis and selection of effective treatment.
本研究旨在探讨急性髓系白血病（AML）伴AML1-ETO患者的c-kit突变情况，并分析其与临床及实验室特征和预后的关系。采用聚合酶链反应（PCR）和测序方法检测31例AML伴AML1-ETO患者的c-kit第17外显子突变。分析c-kit突变与临床特征、实验室检查结果及疾病预后的关系。结果显示，31例AML患者中有14例检测到c-kit突变，突变频率为45.16%。男性患者c-kit突变发生率高于女性患者（P = 0.020）。突变组初诊时白细胞>10×10⁹/L及髓外浸润患者比例分别高于未突变组。上述两组患者在年龄（P = 0.437）和骨髓原始细胞比例（P = 0.510）方面未观察到显著差异。c-kit突变组与c-kit未突变组的完全缓解率（64.29%对80%，P = 0.344）和复发率（58.33%对21.43%，P = 0.054）差异无统计学意义。然而，c-kit突变组的死亡率显著高于c-kit未突变组（57.14%对20%，P = 0.039）。结论是，AML伴AML1-ETO患者中c-kit突变较为常见，c-kit突变患者预后较差。在常规临床实践中检测c-kit突变对于患者的风险分层、预后评估及有效治疗方案的选择具有重要意义。
