Table 2.

Frequency of KIT mutation in different diagnostic subgroups of adult patients with systemic mastocytosis




Patients with KIT mutation on BM mast cells, no. (%)
Category
Patient mast cells, no. of total (%)
Mast cells
CD34+ HPCs
Eosinophils
Monocytes
Neutrophils
Lymphocytes
MCL*  5/6 (83)   2/2 (100)   2/2 (100)   1/1 (100)   NA   1/1 (100)   NA  
ISM   72/74 (97)§  43/43 (100)   9/38 (24)   9/42 (21)   4/37 (11)   3/37 (8)   1/10 (10)  
SM-ana  7/7 (100)  6/6 (100)   0/6 (0)   0/6 (0)   0/6 (0)   0/6 (0)   0/2 (0)  
WDSM  2/7 (29)   2/2 (100)   1/2 (50)   0/2 (0)   0/2 (0)   0/2 (0)   0/2 (0)  
ASM   6/6§ (100)   5/5 (100)   3/4 (75)   4/5 (80)   3/4 (75)   4/5 (80)   3/4 (75)  
SM-AHNMD   13/13 (100)  9/9 (100)   6/9 (67)   6/9 (67)   5/8 (63)   4/7 (57)   2/5 (40)  
Total
 
105/113 (93)
 
67/67 (100)
 
21/61 (34)
 
20/65 (31)
 
12/57 (21)
 
12/58 (21)
 
6/23 (26)
 



Patients with KIT mutation on BM mast cells, no. (%)
Category
Patient mast cells, no. of total (%)
Mast cells
CD34+ HPCs
Eosinophils
Monocytes
Neutrophils
Lymphocytes
MCL*  5/6 (83)   2/2 (100)   2/2 (100)   1/1 (100)   NA   1/1 (100)   NA  
ISM   72/74 (97)§  43/43 (100)   9/38 (24)   9/42 (21)   4/37 (11)   3/37 (8)   1/10 (10)  
SM-ana  7/7 (100)  6/6 (100)   0/6 (0)   0/6 (0)   0/6 (0)   0/6 (0)   0/2 (0)  
WDSM  2/7 (29)   2/2 (100)   1/2 (50)   0/2 (0)   0/2 (0)   0/2 (0)   0/2 (0)  
ASM   6/6§ (100)   5/5 (100)   3/4 (75)   4/5 (80)   3/4 (75)   4/5 (80)   3/4 (75)  
SM-AHNMD   13/13 (100)  9/9 (100)   6/9 (67)   6/9 (67)   5/8 (63)   4/7 (57)   2/5 (40)  
Total
 
105/113 (93)
 
67/67 (100)
 
21/61 (34)
 
20/65 (31)
 
12/57 (21)
 
12/58 (21)
 
6/23 (26)
 

Patient mast cells indicates the frequency of patients carrying KIT mutation in their mast cells, from all patients analyzed. All other data shows patients with KIT mutation-positive mast cells. Results expressed as number of cases with the KIT mutation from all cases analyzed (N). All but 3 patients had the D816V KIT mutation.

NA indicates not analyzed.

*

One patient had the D816Y KIT mutation.

One patient had the VI815-816 insertion in the KIT sequence.

One patient had the I817V KIT mutation.

§

P < .001 compared with the WDSM group.

P < .05 compared with the WDSM group.

P < .01 compared with the WDSM group.

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