Table 1.

CH characteristics increasing risk for leukemia transformation

DefinitionReferences
Total no. of mutations  
 >1 gene 10,13,16,17  
 >250 somatic SNPs 4  
VAF  
 >10% 3,17  
RDW  
 >14% 13,16  
Specific gene  
 Study specific: 13,16,17  
TP53, U2AF1/spliceosome  
IDH1/2, RUNX1, PHF6 17  
Specific variant 18  
 DNMT3A (R882C/H, R729W, R326C, R320*, R736H/C, Y735C, W860R, R771*, R598*, P904L)  
 SRSF2 P95R/H/L  
 SF3B1 K700E, K666N  
 JAK2 V617F  
 IDH2 R140Q  
 GNB1 K57E  
DefinitionReferences
Total no. of mutations  
 >1 gene 10,13,16,17  
 >250 somatic SNPs 4  
VAF  
 >10% 3,17  
RDW  
 >14% 13,16  
Specific gene  
 Study specific: 13,16,17  
TP53, U2AF1/spliceosome  
IDH1/2, RUNX1, PHF6 17  
Specific variant 18  
 DNMT3A (R882C/H, R729W, R326C, R320*, R736H/C, Y735C, W860R, R771*, R598*, P904L)  
 SRSF2 P95R/H/L  
 SF3B1 K700E, K666N  
 JAK2 V617F  
 IDH2 R140Q  
 GNB1 K57E  

RDW, red cell distribution width.

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