C-kit mutation in acute myeloid leukemia patients with AML1-ETO fusion gene and its clinical significance.
	    		
		   		
		   			
		   		
	    	
    	 
    	10.7534/j.issn.1009-2137.2013.04.005
   		
        
        	
        	
        	
        		- Author:
	        		
		        		
		        		
			        		Su-Xia GENG
			        		
			        		
			        		
			        			1
			        			
			        		
			        		
			        		
			        		
			        		;
		        		
		        		
		        		
			        		Xin DU
			        		
			        		;
		        		
		        		
		        		
			        		Jian-Yu WENG
			        		
			        		;
		        		
		        		
		        		
			        		Xin HUANG
			        		
			        		;
		        		
		        		
		        		
			        		Ze-Sheng LU
			        		
			        		;
		        		
		        		
		        		
			        		Li-Ye ZHONG
			        		
			        		;
		        		
		        		
		        		
			        		Rong GUO
			        		
			        		;
		        		
		        		
		        		
			        		Sui-Jing WU
			        		
			        		;
		        		
		        		
		        		
			        		Ping WU
			        		
			        		
		        		
		        		
		        		
		        		
		        			
			        		
			        		Author Information
			        		
		        		
		        		
			        		
			        		
			        			1. Department of Hematology, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Guangzhou 510080, Guangdong Province, China.
			        		
		        		
	        		
        		 
        	
        	
        	
        		- Publication Type:Journal Article
 
        	
        	
            
            	- MeSH:
            	
	        			
	        				
	        				
				        		
					        		Adolescent;
				        		
			        		
				        		
					        		Adult;
				        		
			        		
				        		
					        		Aged;
				        		
			        		
				        		
					        		Core Binding Factor Alpha 2 Subunit;
				        		
			        		
				        		
					        		genetics;
				        		
			        		
				        		
					        		DNA Mutational Analysis;
				        		
			        		
				        		
					        		Female;
				        		
			        		
				        		
					        		Humans;
				        		
			        		
				        		
					        		Leukemia, Myeloid, Acute;
				        		
			        		
				        		
					        		genetics;
				        		
			        		
				        		
					        		pathology;
				        		
			        		
				        		
					        		Male;
				        		
			        		
				        		
					        		Middle Aged;
				        		
			        		
				        		
					        		Mutation;
				        		
			        		
				        		
					        		Oncogene Proteins, Fusion;
				        		
			        		
				        		
					        		genetics;
				        		
			        		
				        		
					        		Prognosis;
				        		
			        		
				        		
					        		Proto-Oncogene Proteins c-kit;
				        		
			        		
				        		
					        		genetics;
				        		
			        		
				        		
					        		RUNX1 Translocation Partner 1 Protein;
				        		
			        		
				        		
					        		Treatment Outcome;
				        		
			        		
				        		
					        		Young Adult
				        		
			        		
	        			
	        			
            	
            	
 
            
            
            	- From:
	            		
	            			Journal of Experimental Hematology
	            		
	            		 2013;21(4):839-842
	            	
            	
 
            
            
            	- CountryChina
 
            
            
            	- Language:Chinese
 
            
            
            	- 
		        	Abstract:
			       	
			       		
				        
				        	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.