Table 2.

Clinical, laboratory and molecular characteristics of patients with MPL515 mutations (at the time of MPL515 testing)


Patient no.

Sex/age, y, at diagnosis

Diagnosis

JAK2V617F status

MPL515 status

MPL515 mutant peak/wild-type peak ratio, %

Cytogenetics

Hgb, g/dL

WBC count, × 109/L

Platelet count, × 109/L

AML

Status at last follow-up

Duration of follow-up, mo
Mayo study             
   1   M/32   De novo MMM   WT   W515L   < 50   Normal   11.4   5.5   436   No   Alive   40  
   2   M/46   De novo MMM   Heterozygous   W515L   < 50   del(13q)   9.5   5.3   379   No   Deceased   91  
   3   M/64   De novo MMM   WT   W515L   < 50   del(20q)   9.9   5.7   182   No   Alive   94  
   4   M/60   De novo MMM   WT   W515K   < 50   Normal   8.3   4.5   215   No   Alive   30  
   5   M/61   De novo MMM   WT   W515L   < 50   ND   11.5   36.6   139   No   Alive   22  
   6   M/75   Post-de novo MMM AML (M0)   WT   W515L   > 50   t(1;7) t(1;21)*  9.0   72.1   161   n/a   Deceased   34  
   7   F/52   Post-de novo MMM AML (M2)   WT   W515K   100   Normal   9.0   10.6   430   n/a   Alive   67  
   8   M/49   De novo MMM   Heterozygous   W515L + W515K   < 50   Normal   8.2   4.6   40   No   Alive   23  
   9   F/53   De novo MMM   Heterozygous   W515L + W515K   < 50   Complex abnormalities   6.3   8.5   124   Yes   Deceased   20  
   10   M/58   De novo MMM   WT   W515K   100   del(11q)*  11.5   10.3   146   No   Alive   108  
   11   M/71   ET   WT   W515L   < 50   Normal   14.0   6.9   959   No   Alive   168  
   12   F/67   ET   WT   W515L   > 50   t(1;21)   9.1   4.1   1539   Yes   Deceased   172  
   13   M/81   Post-ET MMM AML (M2)   WT   W515L   100   t(8;21)   9.6   47.4   161   n/a   Deceased   72  
Harvard study             
   14   F/59   De novo MMM   WT   W515L   NA   Normal   NA   NA   NA   No   Alive   NA  
   15   F/5   De novo MMM   WT   W515L   NA   Normal   9.4   7.5   261   No   Alive   NA  
   16   M/58   De novo MMM   WT   W515L   NA   del(16q)*  10.8   7.2   120   Yes   Deceased   36  
   17   F/68   De novo MMM   WT   W515L   NA   Normal   10.1   17.7   559   No   Alive   96  
   18   F/45   ET   Heterozygous   W515L   NA   Normal   NA   NA   NA   No   Alive   24  
   19   F/56   ET   Heterozygous   W515L   NA   Normal   NA   NA   658   No   Alive   168  
   20
 
F/67
 
Post-ET MMM
 
Heterozygous
 
W515L
 
NA
 
Normal
 
NA
 
NA
 
650
 
No
 
Alive
 
NA
 

Patient no.

Sex/age, y, at diagnosis

Diagnosis

JAK2V617F status

MPL515 status

MPL515 mutant peak/wild-type peak ratio, %

Cytogenetics

Hgb, g/dL

WBC count, × 109/L

Platelet count, × 109/L

AML

Status at last follow-up

Duration of follow-up, mo
Mayo study             
   1   M/32   De novo MMM   WT   W515L   < 50   Normal   11.4   5.5   436   No   Alive   40  
   2   M/46   De novo MMM   Heterozygous   W515L   < 50   del(13q)   9.5   5.3   379   No   Deceased   91  
   3   M/64   De novo MMM   WT   W515L   < 50   del(20q)   9.9   5.7   182   No   Alive   94  
   4   M/60   De novo MMM   WT   W515K   < 50   Normal   8.3   4.5   215   No   Alive   30  
   5   M/61   De novo MMM   WT   W515L   < 50   ND   11.5   36.6   139   No   Alive   22  
   6   M/75   Post-de novo MMM AML (M0)   WT   W515L   > 50   t(1;7) t(1;21)*  9.0   72.1   161   n/a   Deceased   34  
   7   F/52   Post-de novo MMM AML (M2)   WT   W515K   100   Normal   9.0   10.6   430   n/a   Alive   67  
   8   M/49   De novo MMM   Heterozygous   W515L + W515K   < 50   Normal   8.2   4.6   40   No   Alive   23  
   9   F/53   De novo MMM   Heterozygous   W515L + W515K   < 50   Complex abnormalities   6.3   8.5   124   Yes   Deceased   20  
   10   M/58   De novo MMM   WT   W515K   100   del(11q)*  11.5   10.3   146   No   Alive   108  
   11   M/71   ET   WT   W515L   < 50   Normal   14.0   6.9   959   No   Alive   168  
   12   F/67   ET   WT   W515L   > 50   t(1;21)   9.1   4.1   1539   Yes   Deceased   172  
   13   M/81   Post-ET MMM AML (M2)   WT   W515L   100   t(8;21)   9.6   47.4   161   n/a   Deceased   72  
Harvard study             
   14   F/59   De novo MMM   WT   W515L   NA   Normal   NA   NA   NA   No   Alive   NA  
   15   F/5   De novo MMM   WT   W515L   NA   Normal   9.4   7.5   261   No   Alive   NA  
   16   M/58   De novo MMM   WT   W515L   NA   del(16q)*  10.8   7.2   120   Yes   Deceased   36  
   17   F/68   De novo MMM   WT   W515L   NA   Normal   10.1   17.7   559   No   Alive   96  
   18   F/45   ET   Heterozygous   W515L   NA   Normal   NA   NA   NA   No   Alive   24  
   19   F/56   ET   Heterozygous   W515L   NA   Normal   NA   NA   658   No   Alive   168  
   20
 
F/67
 
Post-ET MMM
 
Heterozygous
 
W515L
 
NA
 
Normal
 
NA
 
NA
 
650
 
No
 
Alive
 
NA
 

MPL515 mutant peak/wild-type peak ratio was the ratio on sequencing chromatogram × 100. MMM indicates myelofibrosis with myeloid metaplasia; ET, essential thrombocythemia; AML, acute myeloid leukemia; WT, wild type; Hgb, hemoglobin; n/a, not applicable; NA, not available; and ND, not done

*

Cytogenetic abnormalities developed after identification of MPL515 mutations

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