Table 1.

p16INK4A andp15INK4B Gene Status in Matched Diagnosis/Relapse ALL Specimen Pairs

Patient No. Phenotype Diagnosis Karyotype Relapse Karyotype*DiagnosisRelapse
p15p16p15Mp15p16p15M
DR-3  B-lineage ALL 54,XX,+4,der(5)ins(5;?)(q11;?),del(6)(q21), +del(6)(q14), +8,+14,i(17)(q10), +18,+19,+21, +mar[13]/46,XX [12]  54,XX,+X,+4,+6,+8, del(9)(p22p24), +14,+18,+21,+21 [16]/46,XX [2]  G/G  G/G  ND  D/D  D/D  NA 
DR-4  T-ALL 55-60,XX,+X,+1,+1,+2, +2,+3,+4,+5,+6,+9, +10,+11,+12,+13, +14,+15,+17,+19, +21,+22[cp3]/46,XX[18]  46,XX[3] incomplete analysis  D/D D/D  NA  D/D  D/D  NA  
DR-6  B-lineage ALL 52-53,XX not further characterized[3]/46,XX[17]  52-55,XX not further characterized[5]/46,XX[15]  G/G  G/G  M D/D  D/D  NA  
DR-7  B-lineage ALL  Culture failure MLL germline 47,XY,t(2;11)(p1?1.2;q23),+mar[9]/46,XY[8] MLL germline  G/G  G/G  ND  G/G  G/G UM  
DR-9  B-lineage ALL 46,XX,der(4)t(4;?8)(p16;q2?2),del(6)(q13q21),−8, +mar[17]/45-47, idem,+8[7] 46,XX[3] incomplete analysis  G/G  G/G  UM  G/G G/G  UM  
DR-10  T-ALL 46,XX,−18,+mar[2]/46,XX[28]  46,XX[20]  G/G  G/G UM  G/G  D/D  Mptl 
DR-11  ALL, CD10+ 46,XX,t(6;12)(p11;q11),+mar  46,XX[22] D/D  D/D  NA  D/D  D/D  NA  
DR-12  T-ALL 46,XY,inv(5)(p13p15)[9]/46,idem,del(6)(q21)[5]/46,XY[10] 46X,−Y,−16,+19, +r(?)[17]/48,idem, +5,+7[2]  D/D D/D  NA  D/D  D/D  NA  
DR-13  ALL, CD10+ 45,X,−Y[5]/46,XY [13]  46,XY[15] D/D  D/D  NA  D/D  D/D  NA  
DR-14  B-lineage ALL  47,XY,del(6)(q13), +mar[14]/46,XY[11] 47,XY,del(12)(p12),+mar [7]/46,XY[4]  G/G  G/G  ND G/G  G/G  UM  
DR-15  ALL, CD10+ 46,XY,del(11)(p13)[6]/46,XY[14]  46,XY[20]  G/G  G/G ND  G/G  G/G  UM  
DR-16  Infant ALL, CD10− 46,XY,t(4;11)(q21;q23)[9] MLL rearranged  47,XY,t(4;11)(q21;q23), +15[19] MLL rearranged  G/G  G/G ND  G/G  G/G  UM  
DR-17  ALL, CD10+ 54,XX,+add(1)(q1?2),+6, +10,+14,+14,+17, +21,+21[13]/46,XX[6] 53,XX,+add(1)(q1?2), +6,+10,+14, +14,+21,+21[21]  G/G G/G  UM  G/G  G/G  ND  
DR-18† ALL, CD10+ 53,XY,+X,+6,+10,+18,+19, +21,+21[12]/46,XY[2] 53,XY,+X,+Y, +add(1)(p1?3)+6,+10, +21,+21[10]/46,XY[2] G/G  G/G  ND  G/G  D/D  ND  
DR-19  ALL, CD10+ 54,XY,+4,+5,+8,+12,+D, +E,+21,+22 54,XY,+X,+Y,+4,+5,+6, +14,+21, +21[17]/46,XY[9]  G/G G/G  UM  G/G  G/G  Mptl 
DR-20 Infant ALL, CD10− No record MLL rearranged 47,XX,+X,t(11;19)(q23;p13)[12]/46,XX[8] MLL rearranged  G/G  G/G  M  G/G  G/G UM  
DR-21  B-lineage ALL  46,XX[16]  46,XX[10] G/G  G/G  UM  D/D  D/D  NA  
DR-22  B-lineage ALL  46,XX,add(5)(q31)[10]/46,XX[10] 46,XX,add(5)(q31), add(9)(q22), del(20)(q11.2q13.1)[8]/47,idem,+?22[2]/46, XX[19]  G/G  G/G  M  G/G  G/G  ND 
Patient No. Phenotype Diagnosis Karyotype Relapse Karyotype*DiagnosisRelapse
p15p16p15Mp15p16p15M
DR-3  B-lineage ALL 54,XX,+4,der(5)ins(5;?)(q11;?),del(6)(q21), +del(6)(q14), +8,+14,i(17)(q10), +18,+19,+21, +mar[13]/46,XX [12]  54,XX,+X,+4,+6,+8, del(9)(p22p24), +14,+18,+21,+21 [16]/46,XX [2]  G/G  G/G  ND  D/D  D/D  NA 
DR-4  T-ALL 55-60,XX,+X,+1,+1,+2, +2,+3,+4,+5,+6,+9, +10,+11,+12,+13, +14,+15,+17,+19, +21,+22[cp3]/46,XX[18]  46,XX[3] incomplete analysis  D/D D/D  NA  D/D  D/D  NA  
DR-6  B-lineage ALL 52-53,XX not further characterized[3]/46,XX[17]  52-55,XX not further characterized[5]/46,XX[15]  G/G  G/G  M D/D  D/D  NA  
DR-7  B-lineage ALL  Culture failure MLL germline 47,XY,t(2;11)(p1?1.2;q23),+mar[9]/46,XY[8] MLL germline  G/G  G/G  ND  G/G  G/G UM  
DR-9  B-lineage ALL 46,XX,der(4)t(4;?8)(p16;q2?2),del(6)(q13q21),−8, +mar[17]/45-47, idem,+8[7] 46,XX[3] incomplete analysis  G/G  G/G  UM  G/G G/G  UM  
DR-10  T-ALL 46,XX,−18,+mar[2]/46,XX[28]  46,XX[20]  G/G  G/G UM  G/G  D/D  Mptl 
DR-11  ALL, CD10+ 46,XX,t(6;12)(p11;q11),+mar  46,XX[22] D/D  D/D  NA  D/D  D/D  NA  
DR-12  T-ALL 46,XY,inv(5)(p13p15)[9]/46,idem,del(6)(q21)[5]/46,XY[10] 46X,−Y,−16,+19, +r(?)[17]/48,idem, +5,+7[2]  D/D D/D  NA  D/D  D/D  NA  
DR-13  ALL, CD10+ 45,X,−Y[5]/46,XY [13]  46,XY[15] D/D  D/D  NA  D/D  D/D  NA  
DR-14  B-lineage ALL  47,XY,del(6)(q13), +mar[14]/46,XY[11] 47,XY,del(12)(p12),+mar [7]/46,XY[4]  G/G  G/G  ND G/G  G/G  UM  
DR-15  ALL, CD10+ 46,XY,del(11)(p13)[6]/46,XY[14]  46,XY[20]  G/G  G/G ND  G/G  G/G  UM  
DR-16  Infant ALL, CD10− 46,XY,t(4;11)(q21;q23)[9] MLL rearranged  47,XY,t(4;11)(q21;q23), +15[19] MLL rearranged  G/G  G/G ND  G/G  G/G  UM  
DR-17  ALL, CD10+ 54,XX,+add(1)(q1?2),+6, +10,+14,+14,+17, +21,+21[13]/46,XX[6] 53,XX,+add(1)(q1?2), +6,+10,+14, +14,+21,+21[21]  G/G G/G  UM  G/G  G/G  ND  
DR-18† ALL, CD10+ 53,XY,+X,+6,+10,+18,+19, +21,+21[12]/46,XY[2] 53,XY,+X,+Y, +add(1)(p1?3)+6,+10, +21,+21[10]/46,XY[2] G/G  G/G  ND  G/G  D/D  ND  
DR-19  ALL, CD10+ 54,XY,+4,+5,+8,+12,+D, +E,+21,+22 54,XY,+X,+Y,+4,+5,+6, +14,+21, +21[17]/46,XY[9]  G/G G/G  UM  G/G  G/G  Mptl 
DR-20 Infant ALL, CD10− No record MLL rearranged 47,XX,+X,t(11;19)(q23;p13)[12]/46,XX[8] MLL rearranged  G/G  G/G  M  G/G  G/G UM  
DR-21  B-lineage ALL  46,XX[16]  46,XX[10] G/G  G/G  UM  D/D  D/D  NA  
DR-22  B-lineage ALL  46,XX,add(5)(q31)[10]/46,XX[10] 46,XX,add(5)(q31), add(9)(q22), del(20)(q11.2q13.1)[8]/47,idem,+?22[2]/46, XX[19]  G/G  G/G  M  G/G  G/G  ND 

Abbreviations: G, germline; D, deleted; ND, not done; NA, not applicable because of deletion; UM, unmethylated; M, methylated; Mptl, partially methylated.

*

All relapse specimens were collected at the time of first marrow relapse.

†

Patient with isolated CNS relapse before bone marrow relapse.

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