Table 3.

Somatic PTPN11 mutations in childhood acute leukemia


Malignancy, subtype, and nucleotide substitution

No. of cases

Amino acid substitution
ALL   
Common    
172A>T   1   Asn58Tyr  
181G>T   1   Asp61Tyr  
182A>T   1   Asp61Val  
205G>A   2   Glu69Lys  
214G>A   1   Ala72Thr  
215C>T   3   Ala72Val  
226G>A   3   Glu76Lys  
226G>C   2   Glu76Gln  
227A>G   1   Glu76Gly  
1471C>T   1   Pro491Ser  
1472C>T   1   Pro491Leu  
1504T>C   1   Ser502Pro  
1528C>A   1   Gln510Lys  
Pre-B    
215C>A   1   Ala72Asp  
226G>A   1   Glu76Lys  
1472C>T   1   Pro491Leu  
Bilineage    
227A>G   1*  Glu76Gly  
AML   
FAB-M5    
215C>T   2  Ala72Val  
226G>A   1  Glu76Lys  
1520C>A
 
1
 
Thr507Lys
 

Malignancy, subtype, and nucleotide substitution

No. of cases

Amino acid substitution
ALL   
Common    
172A>T   1   Asn58Tyr  
181G>T   1   Asp61Tyr  
182A>T   1   Asp61Val  
205G>A   2   Glu69Lys  
214G>A   1   Ala72Thr  
215C>T   3   Ala72Val  
226G>A   3   Glu76Lys  
226G>C   2   Glu76Gln  
227A>G   1   Glu76Gly  
1471C>T   1   Pro491Ser  
1472C>T   1   Pro491Leu  
1504T>C   1   Ser502Pro  
1528C>A   1   Gln510Lys  
Pre-B    
215C>A   1   Ala72Asp  
226G>A   1   Glu76Lys  
1472C>T   1   Pro491Leu  
Bilineage    
227A>G   1*  Glu76Gly  
AML   
FAB-M5    
215C>T   2  Ala72Val  
226G>A   1  Glu76Lys  
1520C>A
 
1
 
Thr507Lys
 
*

Mixed leukemic cell population expressing CD10+/CD33 (65% of cells) and CD10/CD33+ (35% of cells).

Acute monocytic leukemia, poorly differentiated (FAB-M5a AML).

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