Table 2 Results from targeted RNA sequencing using Archer™ FusionPlex™ Heme Panel version 1
From: Detection of leukemia gene fusions by targeted RNA-sequencing in routine diagnostics
Aberrationa | Diagnosis | Tissue | FISH (% cells) | Additional method | Transcript | Number of unique reads (% of gene target) | |
|---|---|---|---|---|---|---|---|
Normal karyotype | AML | BM | NA | NA | – | – | |
MDS | BM | NA | NA | – | – | ||
t(8;21) | AML | BM | 85% | RUNX1-RUNX1T1 e6-e2 | 1414 (99%) | ||
t(15;17) | AML | BM | 56% | RT-PCR | PML-RARA e6-e3 | 337 (29%) | |
AML | BM | 22% | RT-PCR | PML-RARA e3-e3 | 206 (25%) | ||
AML | BM | 89% | RT-PCR | PML-RARA e3-e3 | 110 (68%) | ||
inv(16) | AML | BM | 47% | CBFB-MYH11 e5-e33 | 108 (62%) | ||
t(1;22) | AML | PB | NA | RT-PCR | RBM15-MKL1 e1-e4 | 442 (41%) | |
t(6;9) | AML | BM | NA | – | DEK-NUP214 e9-e18 | 298 (69%) | |
KMT2A-rearrangement | KMT2A PTD | AML | BM | NA | SNP-array | KMT2A e8e2 fusion | 1024 (19%) |
Unbalanced t(6;11) | AML | BM | 83% (del(11q)) | RT-PCR | KMT2A-MLLT4 e8-e2 | 1538 (76%) | |
Unbalanced t(6;11) | AML | BM | 80% (del(11q)) | RT-PCR | KMT2A-MLLT4 e8-e2 | 924 (92%) | |
t(11;19) | AML | BM | 84% | RT-PCR | KMT2A-ELL e9-e2 | 337 (72%) | |
ins(10;11) | AML | BM | 28% (del(11q)) | – | KMT2A-MLLT10 e6-e15 | 86 (74%) | |
t(4;11) | B-ALL | BM | 94% | RT-PCR | KMT2A-AFF1 e8-e4 | 785 (79%) | |
t(9;11) | B-ALL | PB | 88% | RT-PCR | KMT2A-MLLT3 e8-e6 | 431 (44%) | |
del(11q23) | B-ALL | BM | 87% | RT-PCR | KMT2A-ARHGEF12 e6-e22 | 1153 (90%) | |
t(11;19) | T-ALL | BM | 41%b | – | KMT2A-ENL e8-e2 | 313 (30%) | |
?t(11;22;11) | T-ALL | BM | 73% | RT-PCR | KMT2A-CBL e7-e16 | 120 (59%) | |
t(9;22) | AML (prev PV) | PB | 75% | – | BCR-ABL1 e1-e3 | 408 (68%) | |
B-ALL | BM | 27% (atypical) | RT-PCR | BCR-ABL1 e13-e2 | 280 (45%) | ||
t(12;21) | B-ALL | BM | 86% | RT-PCR | ETV6-RUNX1 e5-e3 | 3215 (15%) | |
B-ALL | BM | 98% | – | ETV6-RUNX1 e4-e3 | 5001 (34%) | ||
t(1;19) | B-ALL | BM | 56% | RT-PCR | TCF3-PBX1 e16-e3 | 6505 (30%) | |
del(1)(p32p32) | T-ALL | PB | NA | SNP-array | STIL-TAL1 e1-e3 | 53 (10%) | |
del(4)(q12q12) | MPN | BM | 48% | – | FIP1L1-PDGFRA e13-e12 | 341 (76%) | |
t(5;12) | MPN | BM | 87% | – | ETV6-PDGFRB e7-e10 | 432 (97%) | |