Table 4

Classification of clonal origin in relapsed ETV6-RUNX1 ALL

PresentationRelapsePossible clonal origins of relapsePatient* remission duration, y
< 22-5> 5
Type 1 ABC → ABC Dominant clone at diagnosis† 9  13 
Type 2 ABC → ABC + DE Dominant clone at diagnosis with further CNA or derivative‡ minor clone selected with or without further CNA 20 10, 26 2 
    21  
    22  
    23  
Type 3 ABC → AB + DE Minor clone at diagnosis selected with or without further CNA 8 11 17 
   15 16 18 
Type 4 ABC → DEF Minor clone at diagnosis selected either  6 19 
  (1) Preleukemia/ancestral with all CNAs gained  7  
  (2) Leukemic clone with or without further CNAs  14  
PresentationRelapsePossible clonal origins of relapsePatient* remission duration, y
< 22-5> 5
Type 1 ABC → ABC Dominant clone at diagnosis† 9  13 
Type 2 ABC → ABC + DE Dominant clone at diagnosis with further CNA or derivative‡ minor clone selected with or without further CNA 20 10, 26 2 
    21  
    22  
    23  
Type 3 ABC → AB + DE Minor clone at diagnosis selected with or without further CNA 8 11 17 
   15 16 18 
Type 4 ABC → DEF Minor clone at diagnosis selected either  6 19 
  (1) Preleukemia/ancestral with all CNAs gained  7  
  (2) Leukemic clone with or without further CNAs  14  

Type 1-4 describe the observed evolution of driver mutations as defined by the SNP array profile. ABCDEF are driver-only CNAs. In addition to the presence of these driver mutations, this model presumes the persistence of the ETV6-RUNX1 fusion gene. Each of the relapsed patients (UPN2-UPN27) is classified on the basis of driver CNA evolution between presentation and relapse (type 1-4) and duration of remission since initial diagnosis.

*

Unique patient numbers given.

†

But other cryptic mutations may be present indicative of evolution.

‡

Derived from major or dominant clone at diagnosis.

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