Clonal evolution and clinical significance of trisomy 8 in acquired bone marrow failure.
	    		
		   		
		   			
		   		
	    	
    	 
    	10.3760/cma.j.issn.0253-2727.2019.06.011
   		
        
        	
        		- VernacularTitle:获得性骨髓衰竭患者8号染色体三体的克隆演变及临床意义
 
        	
        	
        	
        		- Author:
	        		
		        		
		        		
			        		Li Wei ZHOU
			        		
			        		
			        		
			        			1
			        			
			        		
			        		
			        		
			        		
			        		;
		        		
		        		
		        		
			        		Jun SHI
			        		
			        		;
		        		
		        		
		        		
			        		Zhen Dong HUANG
			        		
			        		;
		        		
		        		
		        		
			        		Neng NIE
			        		
			        		;
		        		
		        		
		        		
			        		Ying Qi SHAO
			        		
			        		;
		        		
		        		
		        		
			        		Xing Xin LI
			        		
			        		;
		        		
		        		
		        		
			        		Mei Li GE
			        		
			        		;
		        		
		        		
		        		
			        		Jing ZHANG
			        		
			        		;
		        		
		        		
		        		
			        		Peng JIN
			        		
			        		;
		        		
		        		
		        		
			        		Jin Bo HUANG
			        		
			        		;
		        		
		        		
		        		
			        		Yi Zhou ZHENG
			        		
			        		
		        		
		        		
		        		
		        		
		        			
			        		
			        		Author Information
			        		
		        		
		        		
			        		
			        		
			        			1. Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China; State Key Laboratory of Experimental Hematology, Tianjin 300020, China.
			        		
		        		
	        		
        		 
        	
        	
        	
        		- Publication Type:Journal Article
 
        	
        	
        		- Keywords:
        			
	        			
	        				
	        				
			        		
				        		Acquired bone marrow failure;
			        		
			        		
			        		
				        		Clonal evolution;
			        		
			        		
			        		
				        		Immunosuppressive therapy;
			        		
			        		
			        		
				        		Trisomy 8
			        		
			        		
	        			
        			
        		
 
        	
            
            	- MeSH:
            	
	        			
	        				
	        				
				        		
					        		Adolescent;
				        		
			        		
				        		
					        		Adult;
				        		
			        		
				        		
					        		Aged;
				        		
			        		
				        		
					        		Anemia, Aplastic;
				        		
			        		
				        		
					        		Bone Marrow;
				        		
			        		
				        		
					        		Child;
				        		
			        		
				        		
					        		Chromosomes, Human, Pair 8;
				        		
			        		
				        		
					        		Clonal Evolution;
				        		
			        		
				        		
					        		Female;
				        		
			        		
				        		
					        		Humans;
				        		
			        		
				        		
					        		Male;
				        		
			        		
				        		
					        		Middle Aged;
				        		
			        		
				        		
					        		Retrospective Studies;
				        		
			        		
				        		
					        		Trisomy;
				        		
			        		
				        		
					        		Young Adult
				        		
			        		
	        			
	        			
            	
            	
 
            
            
            	- From:
	            		
	            			Chinese Journal of Hematology
	            		
	            		 2019;40(6):507-511
	            	
            	
 
            
            
            	- CountryChina
 
            
            
            	- Language:Chinese
 
            
            
            	- 
		        	Abstract:
			       	
			       		
				        
				        	Objective: To analyze clonal evolution and clinical significance of trisomy 8 in patients with acquired bone marrow failure. Methods: The clinical data of 63 patients with acquired bone marrow failure accompanied with isolated trisomy 8 (+8) from June 2011 to September 2018 were analyzed retrospectively, the clonal evolution patterns and relationship with immmunosuppressive therapy were summarized. Results: Totally 24 male and 39 female patients were enrolled, including 39 patients with aplastic anemia (AA) and 24 patients with relatively low-risk myelodysplastic syndrome (MDS) . Mean size of+8 clone in MDS patients[65% (15%-100%) ]was higher than that of AA patients[25% (4.8%-100%) , z=3.48, P=0.001]. The patients were was divided into three groups (<30%, 30%-<50%,and ≥50%) according to the proportion of+8 clone. There was significant difference among the three groups between AA[<30%:55.6% (20/36) ; 30-50%: 22.2% (8/36) ; ≥50%22.2% (8/36) ]and MDS patients[<30%:19.0% (4/21) ; 30%-<50%:19.0% (4/21) ; ≥50%61.9% (13/21) ] (P=0.007) . The proportion of AA patients with+8 clone <30% was significantly higher than that of MDS patients (P=0.002) ; and the proportion of AA patients with+8 clone ≥50%was significantly lower than that of MDS patients (P=0.002) . The median age of AA and MDS patients was respectively 28 (7-61) years old and 48.5 (16-72) years old. Moreover, there was no correlation between age and+8 clone size in AA or MDS (r(s)=0.109, P=0.125; r(s)=-0.022, P=0.924, respectively) . There was statistical difference in total iron binding capacity, transferrin and erythropoietin between high and low clone group of AA patients (P=0.016, P=0.046, P=0.012, respectively) , but no significant difference in MDS patients. The immunosuppressive therapy (IST) efficacy of AA and MDS patients was respectively 66.7% and 43.8% (P=0.125) . Comparing with initial clone size (27.3%) , the +8 clone size (45%) of AA patients was increased 1-2 year after IST, but no statistical difference (z=0.83, P=0.272) . Consistently, there was no significant change between initial clone size (72.5%) and 1-2 year clone size (70.5%) after IST in MDS patients. There was no significant difference in IST efficient rate between +8 clone size expansion and decline group of in AA patients at 0.5-<1, 1-2 and>2 years after IST. We found four dynamic evolution patterns of +8 clone, which were clone persistence (45%) , clone disappearance (30%) , clone emergence (10%) and clone recurrence (15%) . Conclusions: AA patients had a low clone burden, while MDS patients had a high burden of +8 clone. The +8 clone of AA patients didn't significantly expanded after IST, and the changes of +8 clone also had no effect on IST response.