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Fig. 4 | Genome Medicine

Fig. 4

From: Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations

Fig. 4

Clinically impactful results. The PIPseq experience yielded clinically impactful results in 67/101 cases. The Venn diagrams depict the complexity of overlapping findings within patients. That is, a patient may have a single finding fitting more than one category, whereas another patient may have a finding fitting one category and another finding fitting a different category. For example, results categorized as Targetable/ Diagnostic (n = 6) are as follows: BCR-ABL1; IDH1; PIK3CA; EML4-NTRK3; [STAT5B, KRAS, JAK1/ STAT5B, i7q]; and [TMEM106B-BRAF/ gain chr 7, LOH 9p], with non-bracketed results representing a single finding fitting two categories and results within brackets representing those that were Targetable/ Diagnostic, respectively. Similarly, results categorized as Targetable/ Prognostic (n = 7) are as follows: FOXP1-ABL1; [TET2/ CEBPA]; [H3F3A, FGFR1/ H3F3A]; [NRAS/ MYCN amp, del 1p and 11q, gain 17q]; [c-KIT, TET2, FLT3, NRAS/ CBFB-MYH11]; [KRAS/ No LOH 1p11q]; and [Gain 12q.14.1 involving CDK2/ H3F3A]. Individual patient results are provided in Tables 2, 3, and 4

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