Table 1.
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.