Table 1 Clinical and genetic characteristics of the nine cases.
From: Ectopia associated MN1 fusions and aberrant activation in myeloid neoplasms with t(12;22)(p13;q12)
| Â | Sex | Age | Diagnosis | Karyotype | Gene mutation | Gene fusion | MN1% |
|---|---|---|---|---|---|---|---|
P1 | Female | 49 | AML-M5 | 46,XX,t(12;22)(p13;q12)[22] | RUNX1 R166Sfs*46 ASXL2 L629Pfs*142 | – | 387.63 |
P2 | Male | 46 | AML-M5 | 49,XY, + 8,t(12;22)(p13;q12), + 21, + der(22), t(12;22)(p13;q13)[20]/50,idem, + 18[1] | NA | MN1-ETV6; ETV6-MN1 type I | 15.76 |
P3 | Male | 59 | MDS-EB-2 | 46,XY,t(12;22)(p13;q12)[7]/46,XY[20] | IDH1 R132H IDH2 R140Q SRSF2 P95R | – | 337.75 |
P4 | Female | 45 | AML-M2 | 46,XX,t(12;22)(p13;q12)[21] | DNMT3A R882H FLT3-ITD | – | 1101.50 |
P5 | Male | 11 | MPAL myeloid/T | 47,X,add(Y)(p11.2),t(4;7)(q31.3;q36), + 8, t(12;22)(p13;q12)[17]/47,idem,del(11)(q23)[2]/47,idem,t(10;13)(p11.2;q14)[1] | – | MN1-ETV6; ETV6-MN1 type I | 55.54 |
P6 | Male | 4 | AML-M5 | 47,XY, + 8,t(12;22)(p13;q12)[1]/47,idem,der(1)t(1;13)(p32;q12),add(2)(p21),add(9)(q13),add(13)(q12)[1]/46,idem,der(1)t(1;13)(p32;q12),add(2)(p21),−8,add(9)(q13),add(13)(q12) [18]/46,XY[1] | – | MN1-ETV6; ETV6-MN1 type I | 59.87 |
P7 | Male | 19 | MPAL myeloid/T | 47,XY, + 8,t(12;22)(p13;q12)[14]/46,XY[6] | NRAS G13V WT1 R462W | MN1-ETV6; ETV6-MN1 type I | 33.50 |
P8 | Male | 60 | CMML | 47,XY, + 8,t(12;22)(p13;q12),del(20)(q11.2)[20] | U2AF1 S34Y | MN1-ETV6; ETV6-MN1 type I | 7.61 |
P9 | Female | 41 | MDS-AML | 46,XX,add(1)(p36.3),t(12;17;22)(p13;q21;q12)[10]/46,XX[12] | NA | MN1-STAT3 exon 1-exon 22 | 13.28 |
