Table 2. Cytogenetic and molecular findings of AML with t(4;12)(q12;p13).
| Case | Karyotype | FISH | Gene Mutations |
|---|---|---|---|
| 1 | 46,XY,t(4;12)(q12;p13)[7]/46,XY,t(4;12) (q12;p13),del(7)(q21q32)[6] /53,XY,+6,+8,+10,+11,+12,+14,+19[6] |
PDGFRA-ETV6 | KRAS-, NRAS- |
| 2 | 46,XX,t(4;12) (q12;p13),del(9) (q22)[20] | NA | NA |
| 3 | 41-42,XY,add(2)(q44),-3,i(3)(q10),t(4;12)(q12;p13),del(5)(p14),del(5) (q13), -7,-9,del(11)(q12),add(14) (p11),-15,-16,-17,-18,-20-,21,-22,+6mar [cp20] |
NA | NA |
| 4* | 46,XX,t(4;12)(q12;p13)[1]/46,XX [29] 46,XX,t(2;13)(p21;q14),t(4;12)(q12;p13)[17]/46,sl,del(9)(q13q22)[3] |
PDGFRA-ETV6 | CEBPA-, FLT3-, KIT-, KRAS-, NPM1-, NRAS- |
| 5 | 46,XY,t(4;12)(q12;p13)[17]/46,XY [3] | PDGFRA-ETV6 | FLT3-ITD+ |
| 6 | 46,XX,t(4;12)(q12;p13)[1]/46,XX,sl,del(16)(q22)[11] /46,sl,t(1;21)(q11;q11.1)[4]/46,XX [3] |
PDGFRA-ETV6 | FLT3-, KRAS-, NRAS- |
| 7 | 45,XY,t(4;12)(q12;p13),der(13;15)(q10;q10),del(20)(q11.2q13.3)[20] | PDGFRA-ETV6 | FLT3-, JAK2-, KRAS-, NRAS- |
| 8 | 46,XX,t(4;12)(q12;p13)[19] | NA | FLT3- |
| 9 | 46,XY,t(4;12)(q12;p13),-7,+mar [13]/46,XY [7] | NA | FLT3-, KRAS-, NRAS- |
| 10* | 46,XX,t(4;12)(q12;p13)[11]/46,XX [7] 46,XX,t(4;12)(q12;p13),t(9;11)(p22;q23),del(10)(q22q24)[12] |
PDGFRA-ETV6 | FLT3-, KRAS-, NRAS- |
| 11 | 46,XY,t(4;12)(q12;p13)[20] | PDGFRA-ETV6 | FLT3- |
| 12 | 46,XY,t(4;12)(q12;p13)[12]/46,XY,t(1;4)(q25;p14),del(10)(q25),-20,+mar[3]/ 46,XY,inv(4)(p16q12)[3]/46,XY [2] |
NA | NA |
| 13 | 46,XX,t(4;12)(q12;p13),t(10;13)(q22;q12)[12]/46,sl,del(2)(q33q37)[3]/ 46,XX,t(4;12)(q12;p13),t(10;13)(q22;q12)[cp5] | NA | FLT3-ITD+ |
| 14 15 |
46,XY,t(4;12)(q12;p13),t(9;14)(p13;q13)[19]/46,XY [1] 46,XY,t(4;12)(q12;p13)[20] |
NA NA |
CEBPA-, FLT3-, IDH1-, IDH2-, KIT-, KRAS-, NPM1-, NRAS- IDH2+, JAK2+, CEBPA-, FLT3-, IDH1-, KIT-, KRAS-, NPM1-, NRAS- |
*These two patients had t(4;12) as a sole abnormality at initial diagnosis and acquired additional cytogenetic aberrations at relapse (case 4) or progression (case 10).
Abbreviations: AML, acute myeloid leukemia; NA, not available