Table 1

Types and frequency of clonal chromosome abnormalities detected in 93 NPM1-mutated AML and 266 AML with recurrent cytogenetic abnormalities

KaryotypeAML
NPM1-mut* (n = 631)t(8;21) (n = 63)inv(16) (n = 37)t(15;17) (n = 83)11q23/MLL (n = 83)
Additional abnormalities 93/631 (14.7%) 44/63 (69.8%) 13/37 (35.1%) 39/83 (47%) 28/83 (33.7%) 
−X/−Y 11 32  
+4 11   
−7     
+8 33 12 
+13    
+19     
+21    
+22   
del(7q)     
del(9q) 10   
del(11q)     
ider(17)(q10)t(15;17)     
Other 67 11 20 30 
Total 142 59 22 44 52 
KaryotypeAML
NPM1-mut* (n = 631)t(8;21) (n = 63)inv(16) (n = 37)t(15;17) (n = 83)11q23/MLL (n = 83)
Additional abnormalities 93/631 (14.7%) 44/63 (69.8%) 13/37 (35.1%) 39/83 (47%) 28/83 (33.7%) 
−X/−Y 11 32  
+4 11   
−7     
+8 33 12 
+13    
+19     
+21    
+22   
del(7q)     
del(9q) 10   
del(11q)     
ider(17)(q10)t(15;17)     
Other 67 11 20 30 
Total 142 59 22 44 52 
*

AML with mutated NPM1.

More than one abnormality was present in a subset of cases with aberrant karyotype.

Includes 4 cases fulfilling the definition of a complex aberrant karyotype but without a typical pattern of chromosomal gains and losses:

(1) 90, XXXX, −3, +8, +8, −10, −11, −17; FLT3-ITD− (74 days, alive);

(2) 49, XY, +der(5)t(5;17)(q11;?), +8, +del(13)(q12); FLT3-ITD− (30 days, alive);

(3) 53, XX, +4, +5, +8, +8, der(12)t(12;13)(q24;q?), +16, +18, +20; FLT3-ITD+ (86 days, dead); and

(4) 55, XY, +X, +4, +5, +8, +10, +13, +14, +17, +18; FLT3-ITD+ (5 days, dead).

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