Mutation patterns in 32 patients with WT1 mutations at diagnosis
| UPN . | Age, y/sex . | FAB . | Karyotype . | WT1 mutation . | Other gene mutations detected . | ||
|---|---|---|---|---|---|---|---|
| Location . | DNA change . | Protein change . | |||||
| 1 | 30/M | 2 | 46XY | Exon 7 | nt1340/1341 (+TCGG), | V382fsX385 | FLT3/ITD |
| 2 | 64/M | 1 | 46XY | Exon 7 | nt1338/1339 (+A), nt1337/1338 (+ACGGT) | G382fsX384, Y381fsX450 | CEBPA |
| 3 | 59/F | 2 | 47,XX, t(7;11)(p15;p15),+8 | Exon 7 | nt1333 (−A) | G380fsX448 | KRAS |
| 4 | 61/M | 1 | 46,XY | Exon 7 | nt1336/1337 (+AACGG) | N381fsX450 | NPM1 |
| 5 | 69/M | 2 | NM | Exon 7 | nt1336/1337 (+AACGG) | N381fsX450 | CEBPA |
| 6 | 35/F | 2 | 46,XY,t(8;21)(q22;q22) | Exon 7 | nt1334/1335 (+A) | Q380fsX384 | — |
| 7 | 25/M | 2 | 46,XY,t(7;11)(p15;p15) | Exon 7 | nt1340/1341 (+TCGG) | V382fsX385 | — |
| 8 | 31/M | 2 | 46,XY,t(8;21)(q21;q22) | Exon 7 | nt1420/1421 (+GAGCAGCCAA) | E409fsX421 | — |
| 9 | 15/M | 2 | 46,XY,t(2;22)(p21;q11) | Exon 7 | nt1338 (C>A) | S381X | FLT3/ITD |
| 10 | 38/F | 2 | 45,XX,t(4;12;11)(q21;q13;p15),-7 | Exon 9 | nt1590-1600 (−ACCTGAAGACC) | P465fsX472 | — |
| 11 | 20/F | 6 | 46,XX | Exon 9 | nt1574/1575 (+AAGT) | F460X | CEBPA |
| 12 | 26/M | 6 | 46,XY | Exon 7 | nt1326/1327 (+AAGAGAC) | R378fsX386 | — |
| 13 | 25/F | 2 | 46,XX,t(8;21)(q22;q22) | Exon 9 | nt1536 (G>T) | G447V | — |
| 14 | 43/M | 6 | 46,XY | Exon 7 | nt1331/1332 (+ACTCTTG) | D379fsX386 | — |
| 15 | 28/F | 1 | 46,XX | Exon 7 | nt1392/1393 (+A) | K399fsX400 | CEBPA |
| 16 | 85/M | 5 | 46,XY | Exon 7 | nt1334/1335(+A) | Q380fsX384 | FLT3/ITD, NPM1 |
| 17 | 80/M | 6 | 46,XY | Exon 7 | nt1271-1275 (−CGAGG, +GCTCAGTGGGGGGAC) | A359fsX387 | RUNX1 |
| 18 | 23/F | 2 | 46,XX,t(7;11)(p15;p15) | Exon 7 | nt1332-1339 (−TACGGTCG) | G379fsX381 | KRAS |
| 19 | 27/F | 2 | 46,XX,t(7;11)(p15;p15) | Exon 7 | nt1336/1337 (+G) | V381fsX384 | FLT3/ITD |
| 20 | 43/M | 2 | 46,XY,del(20)(q11q13)[15]/ 46,idem,del(11)(p13p15)[3] | Exon 7 | nt1302-1306 (−GACGT, +AAGA) | Q369fsX374 | — |
| Exon 7 | nt1398 (G>A) | R401K | |||||
| 21 | 31/F | 2 | 46,XX | Exon 7 | nt1332-1333(−TA) | A379fsX383 | FLT3/ITD,NPM1, NRAS |
| 22 | 53/F | 2 | 46,X,-X,+21 | Exon 7 | nt1323/1324 (+C) | D377fsX384 | CEBPA |
| 23 | 39/F | 4 | 46,XX | Exon 7 | nt1338/1339 (+TCTTGTACGGTCG) | S382fsX388 | FLT3/TKD, NPM1 |
| 24 | 31/F | 1 | 46,XX | Exon 7 | nt1334 (−C, +GG) | G380fsX384 | FLT3/ITD |
| 25 | 16/M | 4 | 46,XY | Exon 7 | nt1328-1331 (−CTTG) | Y378fsX447 | FLT3/TKD, RUNX1 |
| 26 | 48/M | 4 | NM | Exon 7 | nt1326/1327 (+AAGAC) | R378fsX450 | FLT3/ITD, NRAS |
| 27 | 43/F | 8 | Cplx* | Exon 7 | nt1303-1304 (−AC, +GCCTCCTATA) | P370fsX377 | — |
| 28 | 70/F | 4 | 46,XX, t(11;12)(q23;q13), del(9)(q12q33) | Exon 7 | nt1338 (C>A) | S381X | FLT3/ITD, NPM1 |
| 29 | 40/F | 2 | 46,XX | Exon 7 | nt1302-1303 (−GA, +CGG) | P369fsX384 | MLL/PTD |
| 30 | 45/F | 1 | 48,XX,+4,+10[6]/ 47,XX,del(9)(q13q22),+10[4] | Exon 7 | nt1400/1401 (+GAGAT) | Y402X | CEBPA |
| 31 | 26/F | 2 | 46,XX | Exon 7 | nt1338 (C>A) | S381X | FLT3/ITD, MLL/PTD |
| 32 | 40/M | 1 | 46,XY | Exon 7 | nt1393 (−T) | K399fsX448 | CEBPA |
| UPN . | Age, y/sex . | FAB . | Karyotype . | WT1 mutation . | Other gene mutations detected . | ||
|---|---|---|---|---|---|---|---|
| Location . | DNA change . | Protein change . | |||||
| 1 | 30/M | 2 | 46XY | Exon 7 | nt1340/1341 (+TCGG), | V382fsX385 | FLT3/ITD |
| 2 | 64/M | 1 | 46XY | Exon 7 | nt1338/1339 (+A), nt1337/1338 (+ACGGT) | G382fsX384, Y381fsX450 | CEBPA |
| 3 | 59/F | 2 | 47,XX, t(7;11)(p15;p15),+8 | Exon 7 | nt1333 (−A) | G380fsX448 | KRAS |
| 4 | 61/M | 1 | 46,XY | Exon 7 | nt1336/1337 (+AACGG) | N381fsX450 | NPM1 |
| 5 | 69/M | 2 | NM | Exon 7 | nt1336/1337 (+AACGG) | N381fsX450 | CEBPA |
| 6 | 35/F | 2 | 46,XY,t(8;21)(q22;q22) | Exon 7 | nt1334/1335 (+A) | Q380fsX384 | — |
| 7 | 25/M | 2 | 46,XY,t(7;11)(p15;p15) | Exon 7 | nt1340/1341 (+TCGG) | V382fsX385 | — |
| 8 | 31/M | 2 | 46,XY,t(8;21)(q21;q22) | Exon 7 | nt1420/1421 (+GAGCAGCCAA) | E409fsX421 | — |
| 9 | 15/M | 2 | 46,XY,t(2;22)(p21;q11) | Exon 7 | nt1338 (C>A) | S381X | FLT3/ITD |
| 10 | 38/F | 2 | 45,XX,t(4;12;11)(q21;q13;p15),-7 | Exon 9 | nt1590-1600 (−ACCTGAAGACC) | P465fsX472 | — |
| 11 | 20/F | 6 | 46,XX | Exon 9 | nt1574/1575 (+AAGT) | F460X | CEBPA |
| 12 | 26/M | 6 | 46,XY | Exon 7 | nt1326/1327 (+AAGAGAC) | R378fsX386 | — |
| 13 | 25/F | 2 | 46,XX,t(8;21)(q22;q22) | Exon 9 | nt1536 (G>T) | G447V | — |
| 14 | 43/M | 6 | 46,XY | Exon 7 | nt1331/1332 (+ACTCTTG) | D379fsX386 | — |
| 15 | 28/F | 1 | 46,XX | Exon 7 | nt1392/1393 (+A) | K399fsX400 | CEBPA |
| 16 | 85/M | 5 | 46,XY | Exon 7 | nt1334/1335(+A) | Q380fsX384 | FLT3/ITD, NPM1 |
| 17 | 80/M | 6 | 46,XY | Exon 7 | nt1271-1275 (−CGAGG, +GCTCAGTGGGGGGAC) | A359fsX387 | RUNX1 |
| 18 | 23/F | 2 | 46,XX,t(7;11)(p15;p15) | Exon 7 | nt1332-1339 (−TACGGTCG) | G379fsX381 | KRAS |
| 19 | 27/F | 2 | 46,XX,t(7;11)(p15;p15) | Exon 7 | nt1336/1337 (+G) | V381fsX384 | FLT3/ITD |
| 20 | 43/M | 2 | 46,XY,del(20)(q11q13)[15]/ 46,idem,del(11)(p13p15)[3] | Exon 7 | nt1302-1306 (−GACGT, +AAGA) | Q369fsX374 | — |
| Exon 7 | nt1398 (G>A) | R401K | |||||
| 21 | 31/F | 2 | 46,XX | Exon 7 | nt1332-1333(−TA) | A379fsX383 | FLT3/ITD,NPM1, NRAS |
| 22 | 53/F | 2 | 46,X,-X,+21 | Exon 7 | nt1323/1324 (+C) | D377fsX384 | CEBPA |
| 23 | 39/F | 4 | 46,XX | Exon 7 | nt1338/1339 (+TCTTGTACGGTCG) | S382fsX388 | FLT3/TKD, NPM1 |
| 24 | 31/F | 1 | 46,XX | Exon 7 | nt1334 (−C, +GG) | G380fsX384 | FLT3/ITD |
| 25 | 16/M | 4 | 46,XY | Exon 7 | nt1328-1331 (−CTTG) | Y378fsX447 | FLT3/TKD, RUNX1 |
| 26 | 48/M | 4 | NM | Exon 7 | nt1326/1327 (+AAGAC) | R378fsX450 | FLT3/ITD, NRAS |
| 27 | 43/F | 8 | Cplx* | Exon 7 | nt1303-1304 (−AC, +GCCTCCTATA) | P370fsX377 | — |
| 28 | 70/F | 4 | 46,XX, t(11;12)(q23;q13), del(9)(q12q33) | Exon 7 | nt1338 (C>A) | S381X | FLT3/ITD, NPM1 |
| 29 | 40/F | 2 | 46,XX | Exon 7 | nt1302-1303 (−GA, +CGG) | P369fsX384 | MLL/PTD |
| 30 | 45/F | 1 | 48,XX,+4,+10[6]/ 47,XX,del(9)(q13q22),+10[4] | Exon 7 | nt1400/1401 (+GAGAT) | Y402X | CEBPA |
| 31 | 26/F | 2 | 46,XX | Exon 7 | nt1338 (C>A) | S381X | FLT3/ITD, MLL/PTD |
| 32 | 40/M | 1 | 46,XY | Exon 7 | nt1393 (−T) | K399fsX448 | CEBPA |
The nucleotide numberings are according to NCBI Reference Sequence: NM_024426.
FAB indicates French-American-British subtype; NM, no mitosis; and —, negative (no other mutation found).
Cplx: 46,XX,add(5)(p15),del(5)(q11q35),add(6)(p23),add(8)(p21),add(10)(q25),del(12)(p11p13),der(14)t(7;14)(q11;p12),add(19)(q13).