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. Author manuscript; available in PMC: 2013 Nov 13.
Published in final edited form as: Dev Cell. 2012 Nov 13;23(5):908–917. doi: 10.1016/j.devcel.2012.10.010

Figure 2. Manifestations of chromothripsis in human tumors.

Figure 2

(A) Sequencing of a chordoma (notochord-derived tumor) reveals 147 linkages between chromosomes 3q, 4q, 7q, 8p, and 9p, as well as various intrachromosomal rearrangements. Copy number profiles and allelic ratios are displayed in outer and inner rings of the circos plot. Adapted from Stephens et al (2011). (B) Spectral karyotyping of pancreatic adenocarcinoma. Enlargement shows a derivative chromosome containing at least six distinct regions from heterologous chromosomes, including 22, 1, 4, 10, and 14. Note that formation of this derivative has resulted in multiple monosomies, indicating widespread allelic and copy-number losses. Adapted from Stephens et al. (2011). (C) Chromothripsis in a Sonic hedgehog (Shh)-type medulloblastoma arising in a patient with Li-Fraumeni syndrome. The circos plot on the left shows a double minute generated through fragmentation of chromosome 2. Two major mediators of Shh signaling, MYCN and GLI2, are contained in this 5-megabase interval. On the right is shown a fluorescence in situ hybridization (FISH) experiment confirming ubiquitous amplification of both MYCN (red) and GLI2 (green) in the primary tumor. Adapted from Rausch et al. (2012).