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RNA-sequencing of fusion genes in AML
four events described by clinical routine, a rearrangement of KMT2A was detected using FISH without any evidence from analyses by Karyotyping and in the other two events, Karyotyping reported rearranged chromosomes matching the chromosomal location of the fusion partner genes but different chromosomal bands. The 30 known fusion events having no or only low evidence by routine diagnostics
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include recurrent fusions NUP98-NSD1 (n=8), KMT2A- MLLT10 (n=4), DEK-NUP214 (n=3), KAT6A-CREBBP (n=2), KMT2A-MLLT3 (n=2) and RUNX1-CBFA2T3 (n=2). Based on the newly identified fusion genes, patients would be assigned to a different European LeukemiaNet risk group in six of the 30 cases (Online Supplementary Table S5). Chromosomal locations of detected true, known and puta-
Figure 3. Genomic origin of fusion events detected by RNA-sequencing. Circos plots of (A) known and (B) unknown fusion gene can- didates found in the AMLCG, DKTK, Beat AML and FIMM cohorts, illustrating chromo- somal origin of the fusion events. Lines con- nect the positions of fusion partners. Thickness of lines indicates recurrence. Recurrent fusions are labeled with gene symbols of the partner genes. Blue lines indicate known fusion events, red lines indi- cate recurrent novel and gray lines show non-recurrent novel fusion events.
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haematologica | 2022; 107(1)
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