Fig. 2.

Copy number alterations for an adrenocortical carcinoma, including TERT amplification, determined using next generation sequencing and fluorescence in situ hybridization has been depicted (a, b). Relative (Log2) tumor/normal ratios (y axis) and corresponding chromosomes (x axis) are displayed, with each blue dot representing an individual probe region and amplified regions are shown in red (a). Corresponding fluorescence in situ hybridization results using probes for TERT (5p12, red) and control probes (5p12, yellow; 5q11, green) is shown (b). A structural rearrangement of the TERT promoter region with CLPTM1L (c), and a somatic TERT promoter mutation (g.1295228C > T) (d) identified using hybridization-capture based next generation sequencing has been depicted