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Fig. 5 | BMC Medical Genomics

Fig. 5

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

Fig. 5

Development of a MRD follow up assay for T-ALL patient with a KMT2A-CBL fusion. a. The rearrangement was not detectable with G-banding but was with FISH using the KMT2A BA-probe (KMT2A 5′ = green FISH-probe, KMT2A 3′ = red FISH-probe). The 3′ part of KMT2A (red) was found to be translocated to another chromosome. b. Archer anchored multiplex PCR revealed a KMT2A-CBL fusion (likely a result of a three-way translocation as the distal part of KMT2A had translocated to another chromosome). In the figure the genes and chromosomes are illustrated as follows: KMT2A 5′ = green; KMT2A 3′ = red; CBL = black; unidentified derived chromosome (der(?22)) = yellow. c. and d. The transcript information from the targeted RNA sequencing could be used for design of primers and probes for qPCR. Arrows = forward and reverse primers. Line with orange ball = fluorescently-labelled TaqMan probe

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