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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

Table 1.

Chromothripsis in human malignancies

Tumor type Chromothripsis incidence Recurrently affected loci (examples) Reference
Cancer-derived cell lines (multiple sites) 2.4% (n = 746) MYC, CDKN2A, AVEN, IDH2, PML, RYR3, TCF12, MLLT3 (Stephens et al., 2011)
Chronic lymphocytic leukemia 10% (n = 10) CDKN2A, miR-15a/16-1 (Stephens et al., 2011)
Osteosarcoma 33% (n = 9) (Stephens et al., 2011)
Chordoma 18% (n = 11) CDKN2A, FBXW7, WRN, ARID1A (Stephens et al., 2011)
Neuroblastoma 11% (n = 87) MYCN, CDK4, C-MYC, FAN1, FANCM, ATRX, ODZ3, PTPRD, CSMD1, TIAM1 (Molenaar et al., 2012)
Medulloblastoma (all types) 13% (n = 98) MYCN, GLI2 (Rausch et al., 2012)
Sonic Hedgehog subtype medulloblastoma (SHH-MB) with point-mutated TP53 100% (n = 10) BOC, ADAM2A, NEK11, CDK6, NAMPT, IGF1R, MYCN, GLI2 (Rausch et al., 2012)
SHH-MB with hemizygous TP53 loss 33% (n = 3) (Rausch et al., 2012)
SHH-MB with wildtype TP53 0% (n = 22) (Rausch et al., 2012)
WNT-MB 0% (n = 11) (Rausch et al., 2012)
Multiple myeloma 1.3% (n = 764) (Magrangeas et al., 2011)
Colorectal carcinoma not indicated NOTCH2, EXO1, MLL3 (Kloosterman et al., 2011)

Information on the incidence, organ/tissue distribution, and target loci affected by chromothripsis was extracted from the indicated studies and summarized herein.