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Fig. 5 | BMC Genomics

Fig. 5

From: Discovery of clinically relevant fusions in pediatric cancer

Fig. 5

Identification of a novel BRAF fusion in a mixed neuronal-glial tumor. A The TRIM22-BRAF fusion was identified by all seven fusion callers and in the filtered overlap results, total fusions identified by each caller and overlapping fusions are shown (0 overlaps between callers are not shown). B The TRIM22-BRAF fusion is an interchromosomal event between 11p15.4 and 7q34, joining exon 2 of TRIM22 (blue) to exon 9 of BRAF (red). C The resulting fusion product contains the 5′ TRIM22 zinc finger binding domains and BRAF tyrosine kinase catalytic domain. D Single sample gene set enrichment analysis (ssGSEA) indicates a trend toward an enrichment of the MEK (above the 75th percentile, 0.68 standard deviations above the mean of 22,756.87), RAF (above the 75th percentile, 0.60 standard deviations above the mean of 22,635.74), and mTOR (above the 75th percentile, 0.72 standard deviations above the mean of 22,191.50) upregulated gene sets in the TRIM22-BRAF sample (red) compared to the pan-cancer NCH cohort (black) (pan-cancer cohort: n = 229). E The TRIM22-BRAF fusion is predicted to cause constitutive dimerization and activation of the BRAF kinase domain, shown in D, which could be targeted by RAF, MEK, and mTOR inhibitors (green). All images depicted in the associated figure are the authors’ own and not taken from another source

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