Table 2.

Characteristics of patients with KIT-D816 mutations

Case no.
Sex/age, y
Diagnosis
BM blasts, %
D816 mutation
Additional mutations
Karyotype
1   M/32   AML M4   35   gac>gtc; Asp→ Val   —   45,X,–Y [18] 46,XY [2]  
2   M/27   AML M2, mastocytosis of spleen   30   gac>gtc; Asp→ Val   —   45,X,–Y [20]  
3   M/34   AML M2   ND   gtg>cac; Asp→ His   FLT3-LM   45,X,–Y,t(8;21)(q22;q22) [19] 46,XY [1]  
4   M/56   AML M2   80   NA > 10%   —   45,X,–Y,t(8;21)(q22;q22) [2]  
       45,X,–Y,del(4)(q25q31),t(8;21)(q22;q22) [13]  
       45,X,–Y,del(4)(q25q31),t(8;21)(q22;q22),del(9)(q22q34) [5]  
5   F/62   AML M2   85   gac>gtc; Asp→ Val   FLT3-LM   46,XX [25]  
6   F/48   AML M2   70   NA > 10%   FLT3-LM   46,XX [25]  
7   F/46   AML M4   60   gac>gtc; Asp→ Val   —   46,XX [25]  
8   F/68   AML M4eo   ND   gac>gtc; Asp→ Val   NRAS   46,XX,inv(16)(p13q22)[9] 46,XX,t(3;21)(q26;q22),inv(16)(p13q22) [4]  
       46,XX [5]  
9   F/51   AML M2   60   NA > 10%   FLT3-TKD   46,XX,t(3;21)(q26;q22) [15] 46,XX [5]  
10   F/43   AML M2, mastocytosis   ND   gac>gtc; Asp→ Val   —   46,XX,t(8;21)(q22;q22) [1] 45,X,–X,t(8;21)(q22;q22),del(9)(q22) [2]  
11   M/45   AML M2   80   gac>gtc; Asp→ Val   —   46,XY [20]  
12   M/66   AML M2   30   NA > 10%   —   46,XY [23]  
13   M/28   AML M1   ND   gac>gtc; Asp→ Val   FLT3-LM   46,XY [25]  
14   M/46   AML M2   ND   gac>gtc; Asp→ Val   —   46,XY [25]  
15   M/54   AML M4   70   gac>gtc; Asp→ Val   FLT3-LM   46,XY [25]  
16   M/37   AML M2   ND   NA > 10%   FLT3-LM   46,XY [26]  
17   M/60   AML M4   80   NA > 10%   —   46,XY [28]  
18   M/72   s-AML M2   65   gac>gtc; Asp→ Val   —   46,XY,del(7)(q22),t(12;21)(q24.3;q22) [4] 46,XY [4]  
19   M/72   AML M4eo   70   gac>gtc; Asp→ Val   —   46,XY,inv(16)(p13q22)[3] 48,XY, +4, +8,inv(16)(p13q22) [17]  
20   M/73   AML M2   20   gac>gtc; Asp→ Val   —   46,XY,t(17;21)(p13;q22) [12] 46,XY [9]  
21   M/51   t-AML M1   95   gac>gtc; Asp→ Val   —   46,XY,t(8;21)(q22;q22) [18]  
22   M/64   AML M1   90   gac>gtc; Asp→ Val   —   46,XY,t(8;21)(q22;q22) [2] 45,X,–Y,t(8;21)(q22;q22) [18]  
23   M/23   AML M2   80   gac>gtc; Asp→ Val   —   46,XY,t(8;21)(q22;q22) [4] 45,X,–Y,t(8;21)(q22;q22) [11] 46,XY [1]  
24   M/51   AML M2   ND   NA > 10%   —   46,XY,t(8;21)(q22;q22) [9] 45,X,–Y,t(8;21)(q22;q22) [6]  
25   F/75   AML M2   95   NA > 10%   —   47,XX, +4 [2] 47,XX, +4,der(13)t(8;13)(p11;p11) [7] 46,XX [11]  
26   F/64   AML M2   ND   gac>gtc; Asp→ Val   —   47,XX, +4 [21] 46,XX [4]  
27   F/70   s-AML M2   85   gta>tac; Asp→ Tyr   NRAS, MLL-PTD   47,XX, +8 [3] 46,XX [17]  
28   M/76   AML M2   70   gta>tac; Asp→ Tyr   —   47,XY, +4,t(8;21)(q22;q22) [20]  
29   M/62   AML M4   25   gac>gtc; Asp→ Val   —   47,XY, +8 [21]  
30   M/80   AML M2   50   gac>gtc; Asp→ Val   —   47,XY, +9 [14] 46,XY [6]  
31   M/61   s-AML M2   ND   gac>gtc; Asp→ Val   —   47,XY,inv(3)(q21q26), +6 [20]  
32   M/79   s-AML M2   60   gac>gtc; Asp→ Val   —   48,XY, +4, +8 [12] 46,XY [8]  
33
 		 M/75
 		 AML M4
 		 80
 		 NA > 10%
 		 —
 		 53,XY, +3, +6, +7, +8, +8, +12, der(13)t(3;13)(p23;p10), +18 [14] 46,XY [1]
 
Case no.
Sex/age, y
Diagnosis
BM blasts, %
D816 mutation
Additional mutations
Karyotype
1   M/32   AML M4   35   gac>gtc; Asp→ Val   —   45,X,–Y [18] 46,XY [2]  
2   M/27   AML M2, mastocytosis of spleen   30   gac>gtc; Asp→ Val   —   45,X,–Y [20]  
3   M/34   AML M2   ND   gtg>cac; Asp→ His   FLT3-LM   45,X,–Y,t(8;21)(q22;q22) [19] 46,XY [1]  
4   M/56   AML M2   80   NA > 10%   —   45,X,–Y,t(8;21)(q22;q22) [2]  
       45,X,–Y,del(4)(q25q31),t(8;21)(q22;q22) [13]  
       45,X,–Y,del(4)(q25q31),t(8;21)(q22;q22),del(9)(q22q34) [5]  
5   F/62   AML M2   85   gac>gtc; Asp→ Val   FLT3-LM   46,XX [25]  
6   F/48   AML M2   70   NA > 10%   FLT3-LM   46,XX [25]  
7   F/46   AML M4   60   gac>gtc; Asp→ Val   —   46,XX [25]  
8   F/68   AML M4eo   ND   gac>gtc; Asp→ Val   NRAS   46,XX,inv(16)(p13q22)[9] 46,XX,t(3;21)(q26;q22),inv(16)(p13q22) [4]  
       46,XX [5]  
9   F/51   AML M2   60   NA > 10%   FLT3-TKD   46,XX,t(3;21)(q26;q22) [15] 46,XX [5]  
10   F/43   AML M2, mastocytosis   ND   gac>gtc; Asp→ Val   —   46,XX,t(8;21)(q22;q22) [1] 45,X,–X,t(8;21)(q22;q22),del(9)(q22) [2]  
11   M/45   AML M2   80   gac>gtc; Asp→ Val   —   46,XY [20]  
12   M/66   AML M2   30   NA > 10%   —   46,XY [23]  
13   M/28   AML M1   ND   gac>gtc; Asp→ Val   FLT3-LM   46,XY [25]  
14   M/46   AML M2   ND   gac>gtc; Asp→ Val   —   46,XY [25]  
15   M/54   AML M4   70   gac>gtc; Asp→ Val   FLT3-LM   46,XY [25]  
16   M/37   AML M2   ND   NA > 10%   FLT3-LM   46,XY [26]  
17   M/60   AML M4   80   NA > 10%   —   46,XY [28]  
18   M/72   s-AML M2   65   gac>gtc; Asp→ Val   —   46,XY,del(7)(q22),t(12;21)(q24.3;q22) [4] 46,XY [4]  
19   M/72   AML M4eo   70   gac>gtc; Asp→ Val   —   46,XY,inv(16)(p13q22)[3] 48,XY, +4, +8,inv(16)(p13q22) [17]  
20   M/73   AML M2   20   gac>gtc; Asp→ Val   —   46,XY,t(17;21)(p13;q22) [12] 46,XY [9]  
21   M/51   t-AML M1   95   gac>gtc; Asp→ Val   —   46,XY,t(8;21)(q22;q22) [18]  
22   M/64   AML M1   90   gac>gtc; Asp→ Val   —   46,XY,t(8;21)(q22;q22) [2] 45,X,–Y,t(8;21)(q22;q22) [18]  
23   M/23   AML M2   80   gac>gtc; Asp→ Val   —   46,XY,t(8;21)(q22;q22) [4] 45,X,–Y,t(8;21)(q22;q22) [11] 46,XY [1]  
24   M/51   AML M2   ND   NA > 10%   —   46,XY,t(8;21)(q22;q22) [9] 45,X,–Y,t(8;21)(q22;q22) [6]  
25   F/75   AML M2   95   NA > 10%   —   47,XX, +4 [2] 47,XX, +4,der(13)t(8;13)(p11;p11) [7] 46,XX [11]  
26   F/64   AML M2   ND   gac>gtc; Asp→ Val   —   47,XX, +4 [21] 46,XX [4]  
27   F/70   s-AML M2   85   gta>tac; Asp→ Tyr   NRAS, MLL-PTD   47,XX, +8 [3] 46,XX [17]  
28   M/76   AML M2   70   gta>tac; Asp→ Tyr   —   47,XY, +4,t(8;21)(q22;q22) [20]  
29   M/62   AML M4   25   gac>gtc; Asp→ Val   —   47,XY, +8 [21]  
30   M/80   AML M2   50   gac>gtc; Asp→ Val   —   47,XY, +9 [14] 46,XY [6]  
31   M/61   s-AML M2   ND   gac>gtc; Asp→ Val   —   47,XY,inv(3)(q21q26), +6 [20]  
32   M/79   s-AML M2   60   gac>gtc; Asp→ Val   —   48,XY, +4, +8 [12] 46,XY [8]  
33
 		 M/75
 		 AML M4
 		 80
 		 NA > 10%
 		 —
 		 53,XY, +3, +6, +7, +8, +8, +12, der(13)t(3;13)(p23;p10), +18 [14] 46,XY [1]
 

— indicates not present; ND, not done; NA, not applicable.

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