Concurrence of chromosome 6 chromothripsis and glioblastoma metastasis

J Neurosurg. 2017 May;126(5):1472-1478. doi: 10.3171/2016.4.JNS153052. Epub 2016 Jul 22.

Abstract

The authors report an unusual case of a widely metastatic glioblastoma. DNA copy number microarray profile of the resected specimen revealed complex rearrangements found throughout chromosome 6, a phenomenon known as chromothripsis. Such chromothripsis pattern was not observed in 50 nonmetastatic glioblastoma specimens analyzed. Analysis of the 1000+ gliomas profiled by The Cancer Genome Atlas (TCGA) data set revealed one case of chromosome 6 chromothripsis resembling the case described here. This TCGA patient died within 6 months of undergoing tumor resection. Implications of these findings are reviewed in the context of the current literature.

Keywords: TCGA = The Cancer Genome Atlas; chromothripsis; glioblastoma; metastasis; oncology.

Publication types

  • Case Reports

MeSH terms

  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology*
  • Chromosomes, Human, Pair 6 / genetics*
  • Chromothripsis*
  • Glioblastoma / diagnostic imaging
  • Glioblastoma / genetics*
  • Glioblastoma / secondary*
  • Humans
  • Male
  • Young Adult