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Table 3 Fusion genes detected in the Validation cohort with the Archer™ FusionPlex™ Heme Panel version 2

From: Detection of leukemia gene fusions by targeted RNA-sequencing in routine diagnostics

Aberration according to AML or ALL FISH probe panel

Fusion interpretation of result from targeted RNA sequencing using Anchored multiplex PCR

Concordant with FISH result?

 

Transcript

Number of unique reads

(% of gene target)

 

inv(16); CBFB-MYH11

CBFB-MYH11 e5-e33

2068 (48%)

Yes

t(1;19); TCF3-PBX1

TCF3-PBX1 e16-e3

2216 (50%)

Yes

t(10;11); KMT2A-MLLT10

KMT2A-MLLT10 e9-e8

471 (10%)

Yes

t(15;17); PML-RARA

PML-RARA e6-e3

1405 (32%)

Yes

t(12;21); ETV6-RUNX1

ETV6-RUNX1 e5-e3

2242 (11%)

Yes

t(12;21); ETV6-RUNX1

ETV6-RUNX1 e5-e3

1656 (18%)

Yes

t(9;22); BCR-ABL1

BCR-ABL1 e1-e2

2084 (49%)

Yes

t(9;11); KMT2A-MLLT3

KMT2A-MLLT3 e8-e6

803 (18%)

Yes

No fusion,signal pattern consistent with iAMP21a

No fusion

Yes

No fusion

TCF3-ZNF384 e12-e3

564 (54%)

Yesb

No fusion

No fusion

Yes

No fusion

No fusion

 

Yes

  1. aiAMP21 confirmed with SNP-array
  2. bFusion detected with ArcherPCR was not included in the FISH-panel used for analysis of the sample