Table 2.

Mutation profile of study patients

VariablesPre-PMF, N = 278Overt PMF, N = 383P
Driver mutation, n (%)    
 JAK2V617F 187 (67.2) 223 (58.2) .091 
 CALR   
  Type 1 34 (12.2) 68 (17.8) 
  Type 2 16 (5.8) 17 (4.4) 
 MPLW515x 13 (4.7) 23 (6.0) 
 TN 28 (10.1) 52 (13.6) 
Allele burden, mean ± SD, %    
 JAK2V617F 44.5 ± 20.9 47.8 ± 20.9 .50 
 MPLW515x 48.9 ± 34.7 55.4 ± 22.6 .60 
 CALR 47.8 ± 13.2 53.3 ± 10.3 .16 
Mutated, n (%)    
 ASXL1 50 (18.0) 129 (33.7) <.0001 
 EZH2 10 (3.6) 46 (12.0) <.0001 
 SRSF2 25 (9.0) 41 (10.7) .28 
 IDH1/2 6 (2.2) 13 (3.4) .24 
HMR, n (%)    
 =1 75 (27.0) 170 (44.4) <.0001 
 ≥2 15 (5.4) 52 (13.6) <.0001 
VariablesPre-PMF, N = 278Overt PMF, N = 383P
Driver mutation, n (%)    
 JAK2V617F 187 (67.2) 223 (58.2) .091 
 CALR   
  Type 1 34 (12.2) 68 (17.8) 
  Type 2 16 (5.8) 17 (4.4) 
 MPLW515x 13 (4.7) 23 (6.0) 
 TN 28 (10.1) 52 (13.6) 
Allele burden, mean ± SD, %    
 JAK2V617F 44.5 ± 20.9 47.8 ± 20.9 .50 
 MPLW515x 48.9 ± 34.7 55.4 ± 22.6 .60 
 CALR 47.8 ± 13.2 53.3 ± 10.3 .16 
Mutated, n (%)    
 ASXL1 50 (18.0) 129 (33.7) <.0001 
 EZH2 10 (3.6) 46 (12.0) <.0001 
 SRSF2 25 (9.0) 41 (10.7) .28 
 IDH1/2 6 (2.2) 13 (3.4) .24 
HMR, n (%)    
 =1 75 (27.0) 170 (44.4) <.0001 
 ≥2 15 (5.4) 52 (13.6) <.0001 

MPLW515x means any mutation occurring at codon 515. HMR =1 points to the presence of at least 1 mutation in any 1 of ASXL1, EZH2, SRSF2, IDH1/2. HMR ≥2 means the presence of 2 or more mutated genes among the above. Two or more mutations in the same gene are counted as 1. For the calculation of CALR allele burden, type 1 and type 2 mutations were considered together.

SD, standard deviation.

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