Shattered and stitched chromosomes-chromothripsis and chromoanasynthesis-manifestations of a new chromosome crisis?

Genes Chromosomes Cancer. 2012 Nov;51(11):975-81. doi: 10.1002/gcc.21981. Epub 2012 Jul 18.


Chromothripsis (chromosome shattering) has been described as complex rearrangements affecting single chromosome(s) in one catastrophic event. The chromosomes would be "shattered" and "stitched together" during this event. This phenomenon is proposed to constitute the basis for complex chromosomal rearrangements seen in 2-3% of all cancers and in ∼ 25% of bone cancers. Here we discuss chromothripsis, the use of this term and the evidence presented to support a single catastrophic event that remodels the genome in one step. We discuss why care should be taken in using the term chromothripsis and what evidence is lacking to support its use while describing complex rearrangements.

MeSH terms

  • Cell Line, Tumor
  • Chromosome Breakage*
  • Gene Rearrangement*
  • Genome, Human / genetics
  • Humans
  • Models, Genetic*
  • Monte Carlo Method
  • Neoplasms / genetics
  • Terminology as Topic