Fig. 2. (a) The Arriba plot of the TTYH1::C19MC fusion in patients 1, 2, and 3, detected by RNA sequencing. Since C19MC amplification is too small to visualize, we amplified the corresponding area for patients 2 and 3 (arrows). (b) The gene fusions in patients 1 and 2 were due to chromothripsis (CT), while the fusion in patient 3 was due to deletion (del). (c) t-SNE graph of two C19MC amplified ETMR (orange-colored ETMR_2 overlaps upon green-colored ETMR_1, lower arrow), and one DICER-1 mutated ETMR for patient 4 (Mud-colored ETMR_3), which were obtained with DNA methylation Epic850K microarray. The arrows highlight the differing clusters.
© Exp Neurobiol
