Table 1.

Reported non-ITD mutations within the FLT-3 JMD

MutationReferenceNotes
Deletion/indels   
 ΔG598_Y599 Chatain et al14  Differential autophosphorylation 
 F590_D593 delins 
 F590_V592 delins Deeb et al15  — 
 ΔF594_Y597 
 ΔG598_Y599 Shin et al16  — 
 L576_V581 delins PR 
 D593Δ Nguyen et al12  Activating, resistance patterns similar to D835/I836 
Missense   
Y572C Fröhling et al22  Activating 
V592G 
F594I Gianfelici et al17  — 
F594L Reindl et al18  Potentially more sensitive than ITD; increased aneuploidy 
V592A 
V579A 
F590GY591D 
 S574G Syampurnawati et al19  — 
 E598G 
 V579A Stirewalt et al20  — 
 V592A 
 F590GY591D 
Truncation   
Q569Vfs*2 Sandhöfer et al21  Dominant-negative effect on WT FLT-3 
MutationReferenceNotes
Deletion/indels   
 ΔG598_Y599 Chatain et al14  Differential autophosphorylation 
 F590_D593 delins 
 F590_V592 delins Deeb et al15  — 
 ΔF594_Y597 
 ΔG598_Y599 Shin et al16  — 
 L576_V581 delins PR 
 D593Δ Nguyen et al12  Activating, resistance patterns similar to D835/I836 
Missense   
Y572C Fröhling et al22  Activating 
V592G 
F594I Gianfelici et al17  — 
F594L Reindl et al18  Potentially more sensitive than ITD; increased aneuploidy 
V592A 
V579A 
F590GY591D 
 S574G Syampurnawati et al19  — 
 E598G 
 V579A Stirewalt et al20  — 
 V592A 
 F590GY591D 
Truncation   
Q569Vfs*2 Sandhöfer et al21  Dominant-negative effect on WT FLT-3 

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