chromothripsis

English

Etymology

From Ancient Greek χρῶμα (khrôma, “colour”) (referring to English chromo(some)) + θρίψις (thrípsis, “shattering into pieces”) (from τρίβω (tríbō, “I rub”).

Noun

chromothripsis (uncountable)

1. (genetics, pathology) A multiple of chromosomal rearrangements that is associated with some cancers.
   • 2012, Lauren Pecorino, Molecular Biology of Cancer: Mechanisms, Targets, and Therapeutics‎^[1], page 24:

     But for 2—3% of cancers, particularly bone cancer (up to 25%), recent evidence suggests that a single event of chromothripsis involving one or a few chromosomes leads to multiple gene rearrangements (in some cases tens to hundreds) that can disrupt tumor suppressor genes and/or produce oncogenic fusion genes.

   • 2014, Asfar Azmi, Molecular Diagnostics and Treatment of Pancreatic Cancer‎^[2], page 113:

     Another new phenomenon described by Stephens et al.[86] is called “chromothripsis”. Chromothripsis describes a massive genomic rearrangement in one or more chromosomes in a single catastrophic event during the cells' history,

   • 2015, Anders M. Lindroth, Yoon Jung Park, Christoph Plass, “Epigenetic Reprogramming in Cancer”, in Alexander Meissner, Jörn Walter, editors, Epigenetic Mechanisms in Cellular Reprogramming, Springer, page 206:

     Some of the characteristics of chromothripsis are oscillating copy number changes, clustering of breakpoints, localized rearrangements involving one or a part of a chromosome, and complex rearrangements.

Related terms

• chromothriptic